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Keywords = 22q deletion syndrome

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10 pages, 1920 KiB  
Case Report
Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion
by Matteo Iacoviello, Marilidia Piglionica, Ornella Tabaku, Antonella Garganese, Aurora De Marco, Fabio Cardinale, Domenico Bonamonte and Nicoletta Resta
Int. J. Mol. Sci. 2025, 26(15), 7343; https://doi.org/10.3390/ijms26157343 - 29 Jul 2025
Viewed by 275
Abstract
Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the [...] Read more.
Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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14 pages, 1694 KiB  
Article
The Role of MLPA in Detecting Syndromic Submicroscopic Copy Number Variations in Normal QF-PCR Miscarriage Specimens
by Gabriela Popescu-Hobeanu, Mihai-Gabriel Cucu, Alexandru Calotă-Dobrescu, Luminița Dragotă, Anca-Lelia Riza, Ioana Streață, Răzvan Mihail Pleșea, Ciprian Laurențiu Pătru, Cristina Maria Comănescu, Ștefania Tudorache, Dominic Iliescu and Florin Burada
Genes 2025, 16(8), 867; https://doi.org/10.3390/genes16080867 - 24 Jul 2025
Viewed by 327
Abstract
Background/Objectives: Miscarriage is an increasingly common event worldwide arising from various factors, and identifying its etiology is important for planning and managing any future pregnancies. It is estimated that about half of early pregnancy loss cases are caused by genetic abnormalities, while [...] Read more.
Background/Objectives: Miscarriage is an increasingly common event worldwide arising from various factors, and identifying its etiology is important for planning and managing any future pregnancies. It is estimated that about half of early pregnancy loss cases are caused by genetic abnormalities, while a significantly lower rate is found in late pregnancy loss. Multiplex ligation-dependent probe amplification (MLPA) can detect small changes within a gene with precise breakpoints at the level of a single exon. The aim of our study was to identify the rate of copy number variations (CNVs) in spontaneous pregnancy loss samples after having previously tested them via quantitative fluorescence PCR (QF-PCR), with no abnormal findings. Methods: DNA was extracted from product-of-conception tissue samples, followed by the use of an MLPA kit for the detection of 31 microdeletion/microduplication syndromes (SALSA® MLPA® Probemix P245 Microdeletion Syndromes-1A, MRC-Holland, Amsterdam, The Netherlands). Results: A total of 11 (13.1%) out of the 84 successfully tested samples showed CNVs. Duplications accounted for 9.5% of the analyzed samples (eight cases), while heterozygous or hemizygous deletions were present in three cases (3.6%). Among all the detected CNVs, only three were certainly pathogenic (3.6%), with two deletions associated with DiGeorge-2 syndrome and Rett syndrome, respectively, and a 2q23.1 microduplication syndrome, all detected in early pregnancy loss samples. For the remaining cases, additional genetic tests (e.g., aCGH/SNP microarray) are required to establish CNV size and gene content and therefore their pathogenicity. Conclusions: MLPA assays seem to have limited value in detecting supplementary chromosomal abnormalities in miscarriages. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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16 pages, 938 KiB  
Article
Altered Behavior and Neuronal Activity with Paternal Snord116 Deletion
by Daniel S. Scott, Violeta Zaric, Carol A. Tamminga and Ryan K. Butler
Genes 2025, 16(8), 863; https://doi.org/10.3390/genes16080863 - 24 Jul 2025
Viewed by 296
Abstract
Background/Objectives: Prader–Willi Syndrome (PWS) is a neurodevelopmental disease associated with multiple behavioral features, including a prevalence for psychosis. The genetic causes of PWS are well characterized and involve the silencing or deletion of the paternal copy of a region of chromosome 15q11–13. One [...] Read more.
Background/Objectives: Prader–Willi Syndrome (PWS) is a neurodevelopmental disease associated with multiple behavioral features, including a prevalence for psychosis. The genetic causes of PWS are well characterized and involve the silencing or deletion of the paternal copy of a region of chromosome 15q11–13. One gene within this region, Snord116, a non-coding RNA, has been determined to have a determinant role in the manifestation of PWS. However, it remains unclear as to how the deletion of this allele can affect activity in the brain and influence psychosis-like behaviors. Methods: In this study, we assessed the effects of the microdeletion of the paternal copy of Snord116 on regional neural activity in psychosis-associated brain regions and psychosis-like behaviors in mice. Results: The results suggest that Snord116 deletion causes increased c-Fos expression in the hippocampus and anterior cingulate cortex. Snord116 deletion also results in behavioral phenotypes consistent with psychosis, most notably in stressful paradigms, with deficits in sensorimotor gating and augmented contextual as well as cued fear conditioning. Conclusions: These results implicate the targets of Snord116 in the presentation of a psychosis-like state with regional specificity. Full article
(This article belongs to the Special Issue Advances in Gene Therapy)
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11 pages, 2494 KiB  
Case Report
Prenatal Phenotype in a Neonate with Prader–Willi Syndrome and Literature Review
by Libing Luo, Mary Hoi Yin Tang, Shengmou Lin, Anita Sik-Yau Kan, Cindy Ka Yee Cheung, Xiaoying Dai, Ting Zeng, Yanyan Li, Lilu Nong, Haibo Huang, Chunchun Chen, Yue Xu and Kelvin Yuen Kwong Chan
Diagnostics 2025, 15(13), 1666; https://doi.org/10.3390/diagnostics15131666 - 30 Jun 2025
Viewed by 375
Abstract
Background and Clinical Significance: Prader–Willi syndrome (PWS) is a rare genetic disease caused by imprinted gene dysfunction, typically involving deletion of the chromosome 15q11.2-q13 region, balanced translocation, or related gene mutations in this region. PWS presents with complex and varied clinical manifestations. Abnormalities [...] Read more.
Background and Clinical Significance: Prader–Willi syndrome (PWS) is a rare genetic disease caused by imprinted gene dysfunction, typically involving deletion of the chromosome 15q11.2-q13 region, balanced translocation, or related gene mutations in this region. PWS presents with complex and varied clinical manifestations. Abnormalities can be observed from the fetal stage and change with age, resulting in growth, developmental, and metabolic issues throughout different life stages. Case Presentation: We report the prenatal characteristics observed from the second to third trimester of pregnancy in a neonate with PWS. Prenatal ultrasound findings included a single umbilical artery, poor abdominal circumference growth from 26 weeks, normal head circumference and femur length growth, increased amniotic fluid volume after 30 weeks, undescended fetal testicles in the third trimester, small kidneys, and reduced fetal movement. The male infant was born at 38 weeks of gestation with a birth weight of 2580 g. He had a weak cry; severe hypotonia; small eyelid clefts; bilateral cryptorchidism; low responsiveness to medical procedures such as blood drawing; and poor sucking, necessitating tube feeding. Blood methylation-specific multiple ligation-dependent probe amplification (MS-MLPA) showed paternal deletion PWS. Notably, this case revealed two previously unreported prenatal features in PWS: a single umbilical artery and small kidneys. Conclusions: Through literature review and our case presentation, we suggest that a combination of specific sonographic features, including these newly identified markers, may aid clinicians in the early diagnosis of PWS. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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16 pages, 6985 KiB  
Article
Development of a Quadruplex RT-qPCR Assay for Rapid Detection and Differentiation of PRRSV-2 and Its Predominant Genetic Sublineages in China
by Guishan Ye, Siyu Xiong, Zhipeng Su, Guosheng Chen, Siyuan Liu, Zixuan Wang, Huanchun Chen and Anding Zhang
Viruses 2025, 17(6), 853; https://doi.org/10.3390/v17060853 - 16 Jun 2025
Viewed by 489
Abstract
Background: Porcine Reproductive and Respiratory Syndrome (PRRS) is a highly contagious disease characterized by reproductive failure in sows and severe respiratory disorders across all swine ages, causing significant economic losses. In China, the PRRSV epidemiological landscape is complex, with the coexistence of multiple [...] Read more.
Background: Porcine Reproductive and Respiratory Syndrome (PRRS) is a highly contagious disease characterized by reproductive failure in sows and severe respiratory disorders across all swine ages, causing significant economic losses. In China, the PRRSV epidemiological landscape is complex, with the coexistence of multiple lineages and frequent recombination. The major circulating strains include sublineages 1.8 (NADC30-like PRRSV) and 1.5 (NADC34-like PRRSV), along with lineages 8 (HP-like PRRSV) and 5 (VR2332-like PRRSV), highlighting the urgent need for rapid detection and lineage differentiation. Methods: A quadruplex RT-qPCR assay was developed targeting lineage-specific deletions in the NSP2 gene to simultaneously detect PRRSV-2 and differentiate NADC30-like PRRSV, HP-like PRRSV, and NADC34-like PRRSV strains. The assay was optimized with respect to reaction conditions, including annealing temperature, primers, and probe concentrations. The method’s performance was evaluated in terms of specificity, sensitivity, repeatability, stability, limit of detection (LOD), and consistency with sequencing results. Results: The assay demonstrated high sensitivity (LOD of 3 copies/μL), high specificity, and good repeatability (coefficient of variation < 1.5%). Field application using 938 samples from Guangxi A and B farms revealed NADC30-like PRRSV wild-type strains at positivity rates of 13.44% and 3.53%, respectively. Positive samples selected for sequencing were further confirmed using ORF5-based phylogenetic analysis and NSP2 deletion pattern comparison, which aligned with RT-qPCR detection results. Field application primarily detected NADC30-like PRRSV, while further validation is still needed for HP-like and NADC34-like strains. The developed quadruplex RT-qPCR assay enables rapid and simultaneous detection of PRRSV-2 and differentiation of three major lineages, providing a sensitive, specific, and reliable tool for distinguishing vaccine-derived from circulating strains and supporting targeted disease surveillance and control in swine farms. Full article
(This article belongs to the Section Animal Viruses)
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17 pages, 2154 KiB  
Article
Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies
by Lucía Ballesta-Alcaraz, Mónica Bernal, Jose Ramón Vilchez, Jorge Antonio Palacios, Pilar Jiménez, Pilar Garrido, Juan Francisco Gutiérrez-Bautista and Francisco Ruiz-Cabello
Int. J. Mol. Sci. 2025, 26(12), 5763; https://doi.org/10.3390/ijms26125763 - 16 Jun 2025
Viewed by 538
Abstract
Optical genome mapping (OGM) is a novel, high-resolution technology for genome-wide detection of structural variants, offering clear advantages over conventional cytogenetics in hematologic malignancies. We applied OGM to a large cohort of patients with acute myeloid leukemia (AML), myelodysplastic syndromes (MDSs), and B-cell [...] Read more.
Optical genome mapping (OGM) is a novel, high-resolution technology for genome-wide detection of structural variants, offering clear advantages over conventional cytogenetics in hematologic malignancies. We applied OGM to a large cohort of patients with acute myeloid leukemia (AML), myelodysplastic syndromes (MDSs), and B-cell acute lymphoblastic leukemia (B-ALL) to evaluate its clinical utility. In AML and MDS, it revealed high-risk alterations such as deletions in 5q31–5q32 and 7q22, and cryptic fusions like NUP98::NSD1 that were missed by karyotyping or FISH. It also identified chromoanagenesis, a catastrophic chromosomal event linked to poor prognosis and often undetectable by standard methods. In B-ALL, OGM uncovered clinically relevant deletions in CDKN2A/B, PAX5, and IKZF1, as well as high-risk ploidy changes like hypodiploidy and hyperdiploidy, all important for risk assessment and frequently underdetected. OGM not only refines diagnosis and improves risk stratification but can also uncover cryptic and complex genomic abnormalities. Our findings support its integration into routine diagnostics to enhance classification, guide treatment decisions, and improve patient outcomes. Full article
(This article belongs to the Special Issue Molecular Diagnosis and Treatment of Hematological Malignancies)
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12 pages, 2370 KiB  
Case Report
18q Deletion (de Grouchy Syndrome) in Rural Romania: A Case Report and Healthcare System Challenges
by Mona Irina Matei and Raluca Maria Vlad
Reports 2025, 8(2), 84; https://doi.org/10.3390/reports8020084 - 1 Jun 2025
Viewed by 463
Abstract
This case study presents the long-term management of a 14-year-old male diagnosed with 18q deletion syndrome, also known as de Grouchy Syndrome, highlighting the challenges of treating rare chromosomal disorders in rural Romania. Background and Clinical Significance: 18q deletion syndrome, also known [...] Read more.
This case study presents the long-term management of a 14-year-old male diagnosed with 18q deletion syndrome, also known as de Grouchy Syndrome, highlighting the challenges of treating rare chromosomal disorders in rural Romania. Background and Clinical Significance: 18q deletion syndrome, also known as de Grouchy syndrome, is a chromosomal disorder caused by the deletion of a part of the long arm of chromosome 18. This syndrome is seen in one out of 10,000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders, and autoimmunity. Case Presentation: The patient’s condition was initially suspected at birth due to abnormal features and was later confirmed through genetic testing, revealing a 46,XY,del(18) karyotype. Key clinical features include craniofacial dysmorphism, delayed growth, congenital cardiac anomalies, developmental delay, severe neurological impairment, and multiple comorbidities such as endocrine dysfunction, dental anomalies, and orthopedic deformities. Despite early interventions such as cardiac surgery, the patient’s management has been challenged by limited access to specialized care. Conclusions: The case underscores the importance of timely genetic testing, early multidisciplinary care, and the role of family support in managing complex disorders. This report also addresses the gaps in healthcare accessibility in rural settings and emphasizes the need for improved infrastructure and genetic services. By comparing this case with the existing literature, the study explores the variability in clinical presentations of 18q deletion syndrome and advocates for more precise genetic testing to better understand its phenotypic spectrum. The patient’s ongoing challenges with medical and socio-economic factors emphasize the critical need for coordinated care and family support in managing rare genetic conditions. Full article
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11 pages, 488 KiB  
Article
Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations
by Mauricio Ruiz, Daniela Böhme, Gabriela M. Repetto and Boris Rebolledo-Jaramillo
Genes 2025, 16(6), 638; https://doi.org/10.3390/genes16060638 - 27 May 2025
Viewed by 541
Abstract
Background. The coevolution of nuclear and mitochondrial genomes has guaranteed mitochondrial function for millions of years. The introduction of European (EUR) and African (AFR) genomes into the Ameridian continent during the Columbus exchange in Latin America created an opportunity to naturally test [...] Read more.
Background. The coevolution of nuclear and mitochondrial genomes has guaranteed mitochondrial function for millions of years. The introduction of European (EUR) and African (AFR) genomes into the Ameridian continent during the Columbus exchange in Latin America created an opportunity to naturally test different combinations of nuclear and mitochondrial genomes. However, the impact of potential “mitonuclear discordance” (MND, differences in ancestries) has not been evaluated in Latin American admixed individuals (AMR) affected with developmental disorders, even though MND alters mitochondrial function and reduces viability in other organisms. Methods. To characterize MND in healthy and affected AMR individuals, we used AMR genotype data from the 1000 Genomes Project (n = 385), two cohorts of 22q.11 deletion syndrome patients 22qDS-ARG (n = 26) and 22qDS-CHL (n = 58), and a cohort of patients with multiple congenital anomalies and/or neurodevelopmental disorders (DECIPHERD, n = 170). Based on their importance to mitochondrial function, genes were divided into all mitonuclear genes (n = 1035), high-mt (n = 167), low-mt (n = 793), or OXPHOS (n = 169). We calculated local ancestry using FLARE and estimated MND as the fraction of nuclear mitochondrial genes ancestry not matching the mtDNA ancestry and ∆MND as (MNDoffspring—MNDmother)/MNDmother. Results. Generally, MND showed distinctive population and haplogroup distributions (ANOVA p < 0.05), with haplogroup D showing the lowest MND of 0.49 ± 0.17 (mean ± s.d.). MND was significantly lower in 22qDS-ARG patients at 0.43 ± 0.24 and DECIPHERD patients at 0.56 ± 0.12 compared to healthy individuals at 0.60 ± 0.09 (ANOVA p < 0.05). OXPHOS and high-mt showed the same trend, but with greater differences between healthy and affected individuals. Conclusions. MND seems to inform population history and constraint among affected individuals, especially for OXPHOS and high-mt genes. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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21 pages, 2589 KiB  
Article
Genotype–Phenotype Associations in Phelan–McDermid Syndrome: Insights into Novel Genes Beyond SHANK3
by Julian Nevado, Blanca Escalada, Yolanda Muñoz-GªPorrero, Carmen Adan, Jair Tenorio-Castaño and Pablo Daniel Lapunzina
Int. J. Mol. Sci. 2025, 26(10), 4653; https://doi.org/10.3390/ijms26104653 - 13 May 2025
Cited by 1 | Viewed by 500
Abstract
Phelan–McDermid syndrome (PMS; #MIM: 606232) is a rare neurodevelopmental disorder primarily caused by the haploinsufficiency of the SHANK3 gene, most often due to deletions encompassing the gene or single nucleotide variants within it. Individuals with PMS display a wide range of clinical abnormalities [...] Read more.
Phelan–McDermid syndrome (PMS; #MIM: 606232) is a rare neurodevelopmental disorder primarily caused by the haploinsufficiency of the SHANK3 gene, most often due to deletions encompassing the gene or single nucleotide variants within it. Individuals with PMS display a wide range of clinical abnormalities and considerable genetic heterogeneity. This study aims to investigate genotype–phenotype correlations in a cohort of 213 individuals with PMS and to identify novel candidate genes, beyond SHANK3, that may contribute to the syndrome’s diverse clinical manifestations. Unsupervised clustering based on deletion size and Global Functional Assessment of the Patient (GFAP, previously described and developed by our group), along with additional analytical approaches, were employed to explore genotype–phenotype relationships. Deletion size within the 22q13.3 region emerged as a major determinant of phenotype, with larger deletions associated with more severe global functional impairment. Furthermore, CERK, TBC1D22A, CELSR1, and GRAMD4 were identified as candidate genes within 22q13.3, potentially contributing to core PMS phenotypes, and their putative interactions were explored. Our findings support the central role of SHANK3 in PMS, while also indicating that it does not account for the full phenotypic spectrum. This study underscores the variable impact of distinct genetic alterations in PMS and proposes additional loci implicated in its pathogenesis. These insights may inform future therapeutic strategies, emphasizing the importance of patient stratification and precision medicine. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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14 pages, 1350 KiB  
Review
The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription?
by Ichiro Takada, Shinya Hidano, Tohru Nakagawa, Shinichi Nakagawa, Makoto Makishima and Sayuri Takahashi
Int. J. Mol. Sci. 2025, 26(9), 4056; https://doi.org/10.3390/ijms26094056 - 25 Apr 2025
Viewed by 710
Abstract
ESS2 (ess-2 splicing factor homolog, also known as DGCR14 or DGS-I) is a member of the deletion gene cluster in the 22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge syndrome or CATCH 22 syndrome). The ESS2 gene is not part of a gene [...] Read more.
ESS2 (ess-2 splicing factor homolog, also known as DGCR14 or DGS-I) is a member of the deletion gene cluster in the 22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge syndrome or CATCH 22 syndrome). The ESS2 gene is not part of a gene family, and the coded protein has a coiled-coil structure (Es domain), which is conserved from yeast to humans. Recent studies have shown that ESS2 is involved in splicing C and C* complex, but other interactants, such as transcription factors and U1 snRNP, are also reported. Although the molecular mechanism is still under investigation, ESS2 plays a pivotal role in cell differentiation and proliferation. ESS2 knockout mice show embryonic lethal in the early stage, and recent studies show the association of ESS2 with cancer, autoimmune disease, and neurodevelopmental disorders. ESS2 can regulate mRNA splicing and transcriptional activity through interactions with other proteins, and ESS2-dependent gene expression regulation seems to be cell type-selective. In this review, we summarized the cloning history and functions of ESS2, including recent findings. Full article
(This article belongs to the Special Issue Stem Cells in Tissue Engineering)
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13 pages, 1396 KiB  
Article
Phonemic–Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study
by Esther Moraleda-Sepúlveda, María Rubio-Lorca, Noelia Pulido-García, Noelia Santos-Muriel and Javiera Espinosa-Villarroel
Brain Sci. 2025, 15(3), 298; https://doi.org/10.3390/brainsci15030298 - 12 Mar 2025
Viewed by 902
Abstract
Background: 22q11.2 deletion syndrome is considered as a rare disease. It is considered one of the most prevalent genetic disorders with multiple systemic and neuropsychological alterations. At present, there are few studies that define the linguistic profile in Spanish of children with this [...] Read more.
Background: 22q11.2 deletion syndrome is considered as a rare disease. It is considered one of the most prevalent genetic disorders with multiple systemic and neuropsychological alterations. At present, there are few studies that define the linguistic profile in Spanish of children with this syndrome. Objectives: Therefore, the aim of the present study was to define the phonemic–phonological characteristics of people with 22q11.2 Syndrome. Method: Eight boys and girls between 5 and 16 years old participated in an evaluation using the following tests: Induced Phonological Register and Laura Bosh’s Phonological Assessment and Children’s Speech. Results: After analyzing the results obtained, it was observed that more than half of the participants presented a delay in the acquisition of phonemes. Conclusions: The conclusion of this study points out the importance of working on language, especially the phonetic-phonological area, throughout the development of people with 22q11.2 Syndrome. Full article
(This article belongs to the Section Neuropsychology)
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12 pages, 740 KiB  
Case Report
Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies
by Gregorio Serra, Rosaria Nardello, Vincenzo Antona, Maria Rita Di Pace, Alessandra Giliberti, Mario Giuffrè, Daniela Mariarosa Morreale, Ettore Piro, Ingrid Anne Mandy Schierz, Maria Sergio, Giuseppina Valenti, Marco Pensabene and Giovanni Corsello
Genes 2025, 16(3), 319; https://doi.org/10.3390/genes16030319 - 7 Mar 2025
Viewed by 1838
Abstract
Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomotor delays, ear anomalies, brachydactyly, in addition to small hands [...] Read more.
Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomotor delays, ear anomalies, brachydactyly, in addition to small hands and feet, and rarely a congenital diaphragmatic hernia (CDH). Case presentation: Here, we report on a neonate with CDH, dysmorphic features, and multiple midline anomalies including a cleft palate, in whom an array-comparative genomic hybridization (a-CGH) analysis allowed the identification of an interstitial deletion of the long arm of chromosome 1. Our patient underwent a surgical correction of CDH on the fourth day of life, while that of cleft palate has been planned to be performed at 12 months. Conclusions: The few subjects suffering such rearrangement reported to date, along with the clinical and genetic profile of the present newborn, show that 1q deletions should be considered within the context of the “interstitial 1q deletion syndrome”. Comparing our case with those described in previous studies, the involved genomic regions and the phenotypic traits are partially overlapping, although the clinical picture of the present patient is among the few ones including a congenital diaphragmatic hernia within the phenotypical spectrum. A more extensive comparative analysis of a larger number of patients with similar genetic profiles may allow for a more precise clinical and genomic characterization of this rare syndrome, and for genotype–phenotype correlations. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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18 pages, 2773 KiB  
Review
Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review
by Domenico De Falco, Dario Di Stasio, Dorina Lauritano, Alberta Lucchese and Massimo Petruzzi
Appl. Sci. 2025, 15(4), 2195; https://doi.org/10.3390/app15042195 - 19 Feb 2025
Viewed by 1071
Abstract
Phelan–McDermid syndrome (PMS) is a rare genetic disorder primarily caused by deletions or structural alterations of chromosome 22q13, often involving the SHANK3 gene. However, mutations in other genes, such as CELSR1, or deletions in the interstitial regions of 22q13 contribute to the phenotypic [...] Read more.
Phelan–McDermid syndrome (PMS) is a rare genetic disorder primarily caused by deletions or structural alterations of chromosome 22q13, often involving the SHANK3 gene. However, mutations in other genes, such as CELSR1, or deletions in the interstitial regions of 22q13 contribute to the phenotypic variability of PMS. The syndrome is characterized by developmental delay, cognitive impairment, absent or significant impairment speech, autism spectrum disorder (ASD), and distinctive craniofacial features. Lymphedema, present in 10–25% of cases, typically affects peripheral regions, while facial involvement has not been documented to date. Orofacial manifestations frequently include dolichocephaly, widely spaced eyes, prominent ears, and dysmorphic features, such as a bulbous nose and arched palate. This scoping review analyzed seven studies on orofacial features associated with PMS, highlighting a higher phenotypic variability, with frequent findings of intellectual disability, hypotonia, and craniofacial dysmorphisms. Genomic analyses identified consistent deletions in 22q13.31–q13.33 and complex genomic rearrangements. This review, through the report of the first documented case of hemifacial lymphedema in the literature, analyzes the facial features of patients with PMS and their genetic origins. It also highlights the importance of interdisciplinary collaboration and inclusive genetic testing to better define the phenotypic spectrum of this syndrome. A deeper understanding of the genetic and clinical characteristics of PMS can facilitate early diagnosis and personalized management for these patients. Full article
(This article belongs to the Special Issue Orofacial Pain: Diagnosis and Treatment)
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6 pages, 751 KiB  
Case Report
Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights
by José Vicente Gil, Gayane Avetisyan, Sandra de las Heras, Alberto Miralles, María del Cañizo, Ángela Rico, María Eli Valerio, Vanesa Díaz, Paula Piñero, Carmen Orellana, José Cervera, Carolina Fuentes, José María Fernández, Eva Barragán, Esperanza Such and Marta Llop
Int. J. Mol. Sci. 2025, 26(1), 357; https://doi.org/10.3390/ijms26010357 - 3 Jan 2025
Viewed by 1586
Abstract
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease [...] Read more.
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c. The onset of B-ALL occurred significantly earlier than previously reported in iAMP21-ALL, likely due to the presence of r(21)c. Only scarce cases of iAMP21 with concomitant PAX5 fusions have been reported. Through an extensive genomic characterization, the novel WWOX::PAX5 as well as 13q12.2 deletion involving FLT3 overexpression was found. These findings suggest that r(21)c may induce chromosomal instability on chromosome 21, triggering chromothripsis and leading to iAMP21-ALL. This case provides valuable insights to unravel the complex interplay between germline and somatic genetic alterations in leukemia. Moreover, it underscores the need for thorough genetic evaluation and multidisciplinary management in patients with syndromic presentation, particularly when rare genetic events may contribute to hematologic malignancies. Full article
(This article belongs to the Special Issue Hallmarks of Cancer: Emerging Insights and Innovations)
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27 pages, 389 KiB  
Article
Driving Innovation to Support Pupils with SEND Through Co-Production in Education and Research: Participatory Action Research with 22q11.2 Deletion Syndrome Families in England
by Michelle Jayman, Sophie Edmonds and Maria Gudbrandsen
Behav. Sci. 2025, 15(1), 22; https://doi.org/10.3390/bs15010022 - 30 Dec 2024
Cited by 1 | Viewed by 1449
Abstract
Children and young people (CYP) with special educational needs and disabilities (SEND) comprise over 1.6 million pupils in classrooms in England. However, evidence suggests pupils’ learning and wellbeing needs are often missed or unmet and legislation designed to increase families’ decision-making in education [...] Read more.
Children and young people (CYP) with special educational needs and disabilities (SEND) comprise over 1.6 million pupils in classrooms in England. However, evidence suggests pupils’ learning and wellbeing needs are often missed or unmet and legislation designed to increase families’ decision-making in education provision has not been translated into practice. The current participatory action research study investigated the perceptions and experiences of a specific population of SEND pupils in mainstream schooling—CYP with 22q11.2 deletion syndrome (22q). Participants included existing and previous mainstream pupils and their parents (n = 8 parent−CYP dyads). Data were collected through semi-structured interviews, and a hybrid inductive-deductive thematic analysis was conducted. Five superordinate themes were generated: minding the gaps in school support; my mental wellbeing story; power and influence; getting it wrong: failing CYP and families; and getting it right: from surviving to thriving. Findings provided authentic insights into the lived experiences of support for CYP with 22q which resonate with the wider SEND population. These findings can help to inform more inclusive practice in mainstream settings. An affirmative model which places SEND pupils and parents at the heart of meaningful reform is urgently needed in schools. Collaborative work among all key stakeholders is paramount to ensure that strategies are genuinely co-produced, co-owned and robustly evidence-based. Full article
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