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Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome
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Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (10 September 2024) | Viewed by 7524

Special Issue Editor

Prof. Dr. Vera Lúcia Gil-da-Silva-Lopes

E-Mail Website
Guest Editor
Department of Translational Medicine—Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, SP, Brazil
Interests: clinical and medical genetics; dysmorphology; chromosomal imbalances; deep phenotyping; oral clefts; 22q11.2 deletion syndrome; gene interactions; natural history of genetic disorders; genetic and public health

Special Issue Information

Dear Colleagues,

Despite the 22q11.2 deletion syndrome (22q11.2DS) being the most common microdeletion in humans, it is a challenging condition to diagnose, as the phenotype is widely heterogeneous. Most individuals with 22q11.2DS have the typical ~3 Mb deletion on chromosome 22, but smaller deletions and atypical deletions of varying sizes can also be present in a minority of patients. However, the size of the deletion seems not to interfere with the phenotype. In addition, this condition includes several comorbidities throughout life, and its clinical management could be improved based on an enhanced understanding of its pathogenicity.

There is evidence that clinical heterogeneity underlies complex genetic mechanisms, including variants in other regions of the genome. Therefore, this Special Issue aims to search for studies that may contribute to the genesis of the genetic heterogeneity of the 22q11.2 deletion syndrome and its pathogenetic mechanisms. Clinical, molecular, experimental, and reviews papers are welcome.

Prof. Dr. Vera Lúcia Gil-da-Silva-Lopes
Guest Editor

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Keywords

  • phenotype
  • deep phenotyping
  • differential diagnosis
  • comorbidities
  • etiological mechanisms
  • pathogenetic mechanisms
  • machine learning
  • functional studies
  • mental disorders
  • congenital cardiac defects
  • immunodeficiency
  • behaviour problems
  • schizophrenia
  • anxiety
  • palatal abnormalities
  • voice abnormalities
  • drug therapy

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Published Papers (5 papers)

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Research

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12 pages, 289 KiB  
Article
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables
by Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, Anelisa Gollo Dantas, Maria Isabel Melaragno and Chong Ae Kim
Genes 2024, 15(5), 595; https://doi.org/10.3390/genes15050595 - 8 May 2024
Viewed by 1016
Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, [...] Read more.
The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life. Full article
(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)
9 pages, 795 KiB  
Article
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
by Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes and Társis Paiva Vieira
Genes 2024, 15(4), 518; https://doi.org/10.3390/genes15040518 - 21 Apr 2024
Viewed by 1562
Abstract
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA [...] Read more.
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However, Truncus arteriosus, pulmonary atresia, seizures, and scoliosis were only found in patients with deletions of maternal origin. Also, a slight difference in the frequency of other clinical features between groups of maternal or paternal origin was noted, including congenital heart disease, endocrinological alterations, and genitourinary abnormalities, all of them more common in patients with deletions of maternal origin. Although parental origin of the deletion does not seem to contribute to the phenotypic variability of most clinical signs observed in 22q11.2DS, these findings suggest that patients with deletions of maternal origin could have a more severe phenotype. Further studies with larger samples focusing on these specific features could corroborate these findings. Full article
(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)
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10 pages, 623 KiB  
Article
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
by Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno and Vera Lúcia Gil-da-Silva-Lopes
Genes 2024, 15(2), 211; https://doi.org/10.3390/genes15020211 - 6 Feb 2024
Viewed by 1493
Abstract
The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil’s Craniofacial Project. [...] Read more.
The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil’s Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene, including a novel variant (c.6158+1del) and two that had been previously reported (c.173dup and c.3241C>T); reverse phenotyping concluded that all three patients presented features of Wiedemann–Steiner syndrome, such as neurodevelopmental disorders and dysmorphic facial features (n = 3), hyperactivity and anxiety (n = 2), thick eyebrows and lower-limb hypertrichosis (n = 2), congenital heart disease (n = 1), short stature (n = 1), and velopharyngeal insufficiency (n = 2). Overlapping features between 22q11.2 deletion syndrome and Wiedemann–Steiner syndrome comprised neuropsychiatric disorders and dysmorphic characteristics involving the eyes and nose region; velopharyngeal insufficiency was seen in two patients and is an unreported finding in WDSTS. Therefore, we suggest that both conditions should be included in each other’s differential diagnoses. Full article
(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)
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Review

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20 pages, 355 KiB  
Review
Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome
by Simon Smerconish and James Eric Schmitt
Genes 2024, 15(4), 440; https://doi.org/10.3390/genes15040440 - 30 Mar 2024
Cited by 1 | Viewed by 1280
Abstract
22q11.2 Deletion Syndrome (22q11.2DS), the most common chromosomal microdeletion, presents as a heterogeneous phenotype characterized by an array of anatomical, behavioral, and cognitive abnormalities. Individuals with 22q11.2DS exhibit extensive cognitive deficits, both in overall intellectual capacity and focal challenges in executive functioning, attentional [...] Read more.
22q11.2 Deletion Syndrome (22q11.2DS), the most common chromosomal microdeletion, presents as a heterogeneous phenotype characterized by an array of anatomical, behavioral, and cognitive abnormalities. Individuals with 22q11.2DS exhibit extensive cognitive deficits, both in overall intellectual capacity and focal challenges in executive functioning, attentional control, perceptual abilities, motor skills, verbal processing, as well as socioemotional operations. Heterogeneity is an intrinsic factor of the deletion’s clinical manifestation in these cognitive domains. Structural imaging has identified significant changes in volume, thickness, and surface area. These alterations are closely linked and display region-specific variations with an overall increase in abnormalities following a rostral-caudal gradient. Despite the extensive literature developing around the neurocognitive and neuroanatomical profiles associated with 22q11.2DS, comparatively little research has addressed specific structure–function relationships between aberrant morphological features and deficient cognitive processes. The current review attempts to categorize these limited findings alongside comparisons to populations with phenotypic and structural similarities in order to answer to what degree structural findings can explain the characteristic neurocognitive deficits seen in individuals with 22q11.2DS. In integrating findings from structural neuroimaging and cognitive assessments, this review seeks to characterize structural changes associated with the broad neurocognitive challenges faced by individuals with 22q11.2DS. Full article
(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)

Other

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10 pages, 1759 KiB  
Case Report
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
by Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, on behalf of the Rare Genomes Project Consortium, Társis Paiva Vieira and Carlos Eduardo Steiner
Genes 2024, 15(4), 513; https://doi.org/10.3390/genes15040513 - 19 Apr 2024
Viewed by 1506
Abstract
Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over 180 manifestations already described. In this report, the authors describe a [...] Read more.
Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over 180 manifestations already described. In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the MIF gene or in genes associated with monogenic arthritis (LACC1, LPIN2, MAFB, NFIL3, NOD2, PRG4, PRF1, STX11, TNFAIP3, TRHR, UNC13DI). However, the patient presented 41 risk polymorphisms for juvenile idiopathic arthritis. Thus, in the present case, arthritis seems coincidental to 22q11.2 deletion syndrome, probably caused by a multifactorial etiology. The association of the MIF gene in individuals previously described with juvenile idiopathic arthritis and 22q11.2 deletion seems unlikely since it is located in the distal and less-frequently deleted region of 22q11.2 deletion syndrome. Full article
(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)
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