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Genes and Pediatrics
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Genes and Pediatrics

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

Deadline for manuscript submissions: 5 June 2026 | Viewed by 8534

Special Issue Editors

Dr. Giorgia Ceravolo

E-Mail Website
Guest Editor
UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK
Interests: neuromuscular disease; genetic; neurodevelopmental disorder
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Roberto Chimenz

E-Mail Website
Guest Editor
Pediatric Nephrology with Dialysis Unit, Maternal-Infantile Department, University Hospital of Messina, 98124 Messina, Italy
Interests: pediatric hemodialysis; peritoneal dialysis; urinary tract infection; nephrotic syndrome; renal transplantation

Special Issue Information

Dear Colleagues,

Pediatric diseases often have a strong genetic component, and integrating genetic analysis into clinical research can enhance our understanding of disease mechanisms, diagnosis, and management. This Special Issue, “Genes and Pediatrics”, brings together a collection of studies on a wide range of pediatric conditions, incorporating genetic findings to complement clinical observations. While the genetic variants reported may not be novel, their documentation in diverse pediatric diseases can contribute to broader datasets, aiding in diagnosis and patient care. By bridging pediatrics and genetics, this Special Issue aims to provide valuable insights for both clinicians and researchers working at the intersection of these fields.

Dr. Giorgia Ceravolo
Prof. Dr. Roberto Chimenz
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric disease
  • genetic variant
  • clinical observation
  • diagnosis
  • patient care

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Published Papers (5 papers)

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Research

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16 pages, 716 KB  
Article
Identifying Genetic Factors Contributing to Non-Syndromic Early-Onset Childhood Obesity Utilizing Whole-Exome Sequencing in Consanguineous Families
by Hazal Banu Olgun Celebioglu, Ayse Pinar Ozturk, Sukran Poyrazoglu and Feyza Nur Tuncer
Genes 2026, 17(5), 530; https://doi.org/10.3390/genes17050530 - 29 Apr 2026
Viewed by 241
Abstract
Purpose: Obesity, characterized by abnormal fat accumulation with comorbidities, continues to increase dramatically, particularly in the pediatric population. Identifying the environmental and genetic causes underlying the development of obesity during early childhood is crucial for establishing preventive and protective treatments for this complex [...] Read more.
Purpose: Obesity, characterized by abnormal fat accumulation with comorbidities, continues to increase dramatically, particularly in the pediatric population. Identifying the environmental and genetic causes underlying the development of obesity during early childhood is crucial for establishing preventive and protective treatments for this complex disease. We aimed to investigate genetic variants related to non-syndromic early-onset childhood obesity. Methods: Whole-exome sequencing was performed in three independent consanguineous families with obesity, including three index cases and two additional affected siblings. Non-synonymous variants with minor allele frequency < 0.01 in all normal populations were filtered using the Genomize-SEQ Platform. Variant confirmations and familial segregations were analyzed by Sanger sequencing. Results: WES revealed a shared ATXN3 gene variant and two known variants of the SH2B1 and ADIPOQ genes, which were reported to be associated with obesity. Additionally, five heterozygous novel gene variants of the ANKK1, NEGR1, OGDH, ABCB1, and GSK3B genes were identified, which are predicted to cause excessive fat accumulation and disruption of energy balance in individuals. Conclusions: We suggest that the cumulative effects of all obesity-associated detected variants lead to the early-onset obesity phenotype observed in individuals. Hence, periodic follow-up and treatment opportunities are recommended for index cases, alongside the adoption of a more active lifestyle and healthy nutrition practices. Full article
(This article belongs to the Special Issue Genes and Pediatrics)
10 pages, 1372 KB  
Article
Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing
by Yosra Bejaoui, Yasser Al-Sarraj, Jana Al-Hage, Fadi F. Bitar, Nady El Hajj, Georges Nemer and Mazen Kurban
Genes 2026, 17(3), 299; https://doi.org/10.3390/genes17030299 - 28 Feb 2026
Viewed by 692
Abstract
Background: Goldenhar syndrome (oculo–auriculo–vertebral spectrum, OAVS) is a rare congenital disorder characterized by craniofacial malformations, systemic anomalies, and significant phenotypic variability. Although it is the second most common craniofacial malformation after a cleft palate, the genetic etiology of Goldenhar syndrome remains largely unexplored. [...] Read more.
Background: Goldenhar syndrome (oculo–auriculo–vertebral spectrum, OAVS) is a rare congenital disorder characterized by craniofacial malformations, systemic anomalies, and significant phenotypic variability. Although it is the second most common craniofacial malformation after a cleft palate, the genetic etiology of Goldenhar syndrome remains largely unexplored. This study aimed to identify genetic variants contributing to Goldenhar syndrome in a Lebanese family with three affected individuals, using whole-exome sequencing and complementary genomic approaches. Methods: Whole-exome sequencing was performed on the nuclear family to identify variants associated with the syndrome. Complementary DNA methylation and gene ontology analyses were conducted to explore epigenetic modifications. Results: A missense shared variant in the MID1 between the affected individuals [NP_000372.1): p. Ile593Phe] gene was observed in the family, while current ACMG evidence was insufficient to establish causality. Additional variants were identified, including a de novo mutation in FBXW11 and a rare frameshift alteration in NDUFAF8, with limited segregation, implicating these genes in associated phenotypes such as craniofacial anomalies and cardiac defects. DNA methylation analysis revealed hypomethylation at CpG sites within the ZC3H3 gene, suggesting an epigenetic contribution to disease variability. Conclusions: Our findings underscore the genetic and epigenetic complexity of Goldenhar syndrome, providing new insights into its molecular etiology and highlighting the challenges of variant interpretation in familial cases of rare congenital disorders. Full article
(This article belongs to the Special Issue Genes and Pediatrics)
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Review

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18 pages, 545 KB  
Review
Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis
by Antonella Gambadauro, Valeria Chirico, Francesca Galletta, Ferdinando Gulino, Roberto Chimenz, Giorgia Serraino, Immacolata Rulli, Alessandro Manganaro, Eloisa Gitto and Lucia Marseglia
Genes 2025, 16(10), 1242; https://doi.org/10.3390/genes16101242 - 21 Oct 2025
Cited by 2 | Viewed by 4851
Abstract
Assisted reproductive technologies (ARTs) have revolutionized infertility treatment, leading to the birth of over 10 million children worldwide. Despite their success, increasing concerns have been expressed regarding the potential long-term outcomes of ART-conceived individuals, particularly in relation to imprinting disorders (IDs). IDs result [...] Read more.
Assisted reproductive technologies (ARTs) have revolutionized infertility treatment, leading to the birth of over 10 million children worldwide. Despite their success, increasing concerns have been expressed regarding the potential long-term outcomes of ART-conceived individuals, particularly in relation to imprinting disorders (IDs). IDs result from the abnormal expression of imprinted genes, which are expressed in a parent-of-origin-specific manner and regulated by epigenetic mechanisms (e.g., DNA methylation). Disruption of these processes, through environmental, genetic, or procedural factors, can lead to disorders such as Beckwith–Wiedemann syndrome (BWS), Silver–Russell syndrome (SRS), Angelman syndrome (AS), and Prader–Willi syndrome (PWS). These syndromes are characterized by distinct clinical features, including growth abnormalities, neurodevelopmental delay, endocrine dysfunction, and cancer predisposition. ART procedures, especially ovarian hyperstimulation, in vitro fertilization (IVF), and embryo culture, coincide with critical periods of epigenetic reprogramming and may contribute to epimutations in imprinting control regions. In this review, we explored epidemiology, molecular mechanisms, and prenatal diagnostic strategies related to these four IDs in the context of ART. The findings suggest a higher prevalence of BWS and SRS in ART-conceived children. The data regarding AS and PWS are more controversial, with conflicting results across populations and methodologies. Although a causal link between ART and IDs remains debated, evidence suggests the potential contribution of ART procedures to epigenetic dysregulation in susceptible individuals. Further large-scale, methodologically rigorous studies will be essential to clarify this association and inform safer ART practices. Full article
(This article belongs to the Special Issue Genes and Pediatrics)
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Other

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9 pages, 1047 KB  
Case Report
The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay
by Norbert Dukuze, Janvier Hitayezu, Jeanne Primitive Uyisenga, Esther Uwibambe, Jean Hubert Caberg, Vinciane Dideberg, Vincent Bours, Abdullateef Isiaka Alagbonsi, Leon Mutesa and Annette Uwineza
Genes 2026, 17(4), 429; https://doi.org/10.3390/genes17040429 - 7 Apr 2026
Viewed by 480
Abstract
Background: Kleefstra syndrome (KS) is a rare neurodevelopmental disorder caused by haploinsufficiency of EHMT1; it is characterized by global developmental delay, intellectual disability, hypotonia, distinctive facial features, and variable congenital anomalies. Autistic features, behavioral abnormalities and severe speech impairment are frequently reported. [...] Read more.
Background: Kleefstra syndrome (KS) is a rare neurodevelopmental disorder caused by haploinsufficiency of EHMT1; it is characterized by global developmental delay, intellectual disability, hypotonia, distinctive facial features, and variable congenital anomalies. Autistic features, behavioral abnormalities and severe speech impairment are frequently reported. However, molecularly confirmed cases of KS from Africa remain extremely limited, largely due to restricted access to genomic diagnostic infrastructures. Methods: We describe a 15-month-old patient from Rwanda presenting with neonatal hypotonia, global developmental delay, short stature, and characteristic dysmorphic facial features. Comprehensive clinical evaluation was performed, followed by trio-based exome sequencing to identify the underlying genetic cause of this neurodevelopmental disorder. Results: Exome sequencing identified a de novo heterozygous frameshift variant in EHMT1 (NM_024757.5: c.2871dup; p. Phe958Leufs*219), confirming the diagnosis of KS. Conclusions: This report presents the first molecularly confirmed case of KS in Rwanda. It highlights additional clinical features like bilateral 5th toe clinodactyly, short stature and absence of obesity in KS. There is a need to further delineate the study of EHMT1 and investigate the natural history of KS across different populations for optimal patient management and to reduce diagnostic odyssey. The diagnostic utility of exome sequencing for neurodevelopmental disorders needs to be strengthened, with strong emphasis on expanding genomic medicine to help diagnose rare diseases in resource-limited settings. Full article
(This article belongs to the Special Issue Genes and Pediatrics)
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10 pages, 1018 KB  
Case Report
Functional Interpretation of a Novel Homozygous METTL5 Variant Associated with ADHD and Neurodevelopmental Abnormalities: A Case Report and Literature Review
by Sheema Hashem, Saba F. Elhag, Ajaz A. Bhat, Waleed Aamer, Aljazi Al-Maraghi, Hala Alhaboub, Dalya Abuthaher, Ammira S. Al-Shabeeb Akil, Mohammad Haris, Khalid Fakhro, Georges Nemer and Madeeha Kamal
Genes 2025, 16(12), 1502; https://doi.org/10.3390/genes16121502 - 15 Dec 2025
Viewed by 938
Abstract
Background and Clinical Significance: Methyltransferase-like protein 5 (METTL5) is a conserved RNA methyltransferase responsible for catalyzing the N6-methyladenosine (m6A) modification of 18S ribosomal RNA, a process critical for ribosome biogenesis and translational regulation. Biallelic variants in METTL5 have been linked to [...] Read more.
Background and Clinical Significance: Methyltransferase-like protein 5 (METTL5) is a conserved RNA methyltransferase responsible for catalyzing the N6-methyladenosine (m6A) modification of 18S ribosomal RNA, a process critical for ribosome biogenesis and translational regulation. Biallelic variants in METTL5 have been linked to autosomal recessive intellectual developmental disorder-72 (MRT72), typically presenting with microcephaly, intellectual disability, and speech delay. However, the association between METTL5 and isolated attention-deficit/hyperactivity disorder (ADHD) remains underexplored. Case Presentation: We report a 14-year-old Qatari female, born to consanguineous parents, who presented with microcephaly, speech delay, learning difficulties, and inattentive-type ADHD. Trio-based whole-genome sequencing identified a novel homozygous METTL5 variant (c.617G > A; p. Arg206Gln), with both parent’s heterozygous carriers. The variant is extremely rare (gnomAD MAF: 0.0000175) and predicted to be deleterious (CADD: 23.7; SIFT: damaging; PolyPhen-2: probably damaging). Structural modeling localized the change within the SAM-dependent catalytic domain, predicting protein destabilization (ΔΔG = +1.8 kcal/mol). The affected residue is highly conserved (ConSurf score: 8), and protein–protein interaction analysis linked METTL5 with METTL14, METTL16, and ZCCHC4, key regulators of rRNA methylation. Conclusions: In silico evidence suggests that the p. Arg206Gln variant disrupts METTL5 function, likely contributing to the observed neurodevelopmental phenotype, including ADHD. This expands the clinical spectrum of METTL5-related disorders and supports its inclusion in neurodevelopmental gene panels. Full article
(This article belongs to the Special Issue Genes and Pediatrics)
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