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Children
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Advances in Pediatric Genetic Disorders
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Advances in Pediatric Genetic Disorders

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: 1 August 2026 | Viewed by 1954

Special Issue Editors

Dr. Mariya Levkova

E-Mail Website
Guest Editor
1. Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria
2. Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria
Interests: rare diseases; dysmorphology; cancer genetics; neurogenetics
Dr. Sonya Galcheva

E-Mail Website
Guest Editor
Department of Pediatrics, Medical University of Varna, 9002 Varna, Bulgaria
Interests: pediatrics; medical genetics; childhood obesity; clinical endocrinology

Special Issue Information

Dear Colleagues,

The study of pediatric genetic disorders has seen transformative advancements over the past few decades, driven by breakthroughs in genomics, bioinformatics, and precision medicine. Historically, these disorders were often poorly understood, with limited diagnostic tools and therapeutic options available. Today, our growing ability to decode the genetic underpinnings of childhood diseases has illuminated the pathophysiology of rare and complex conditions, providing new avenues for targeted interventions and preventative care.

This Special Issue aims to bring together cutting-edge research and comprehensive reviews that explore recent progress in understanding, diagnosing, and treating pediatric genetic disorders. The scope includes novel insights into disease mechanisms, advancements in diagnostic technologies such as whole-genome sequencing, and innovative therapeutic strategies, including gene editing and personalized medicine. Additionally, we seek to address ethical considerations and the integration of genetic counseling into pediatric care.

We invite submissions of original research, clinical studies, and critical reviews that highlight advances in genetic testing, biomarker discovery, therapeutic innovation, and multidisciplinary approaches to care. By showcasing pioneering work, this Special Issue seeks to contribute to the evolving landscape of pediatric genetic medicine and inspire further innovation in the field.

Dr. Mariya Levkova
Dr. Sonya Galcheva
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. Children 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 2400 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 genetic disorders
  • genomic medicine
  • precision medicine
  • gene therapy
  • diagnostic innovations

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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16 pages, 421 KB  
Article
Diagnostic Yield and Genotype–Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study
by Andreya Yaneva, Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan, Lyudmila Angelova and Rouzha Pancheva
Children 2026, 13(4), 444; https://doi.org/10.3390/children13040444 - 25 Mar 2026
Viewed by 689
Abstract
Background/Objectives: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous neurodevelopmental condition, and the diagnostic yield of whole-exome sequencing (WES) varies across settings. This single-center study aimed to determine the molecular diagnostic yield of WES in pediatric ASD and to explore [...] Read more.
Background/Objectives: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous neurodevelopmental condition, and the diagnostic yield of whole-exome sequencing (WES) varies across settings. This single-center study aimed to determine the molecular diagnostic yield of WES in pediatric ASD and to explore genotype–phenotype overlap using a structured, phenotype-driven reanalysis strategy. Methods: We enrolled 60 children with syndromic and non-syndromic ASD, who underwent detailed clinical and dysmorphology assessment. WES for single-nucleotide and copy-number variant (CNV) detection was performed in an accredited laboratory, followed by clinician-driven reinterpretation, integrating expanded phenotypic data and ACMG/AMP-based variant classification. Genes were considered if they harbored rare, potentially pathogenic variants and were previously reported or curated in established ASD-associated gene resources. Results: The initial external laboratory report identified 5 of 60 patients (8.3%) with a pathogenic (P) or likely pathogenic (LP) variant (positive result), 30 of 60 (50.0%) with a variant of unknown significance (VUS) (inconclusive result), and 25 of 60 (41.7%) with a negative result. Clinician-based variant reinterpretation identified pathogenic or likely pathogenic variants in 9 of 60 patients (15.0%), representing an 80% relative increase in diagnostic yield, as well as 43 VUSs distributed across 34 patients, while 17 patients had no reportable variants (negative result). Overall, reanalysis revealed 11 additional variants of interest (pathogenic, likely pathogenic, or VUS) that had not been reported in the initial assessment. In total, 52 sequence and copy-number variants in 46 genes were detected, most of which were VUSs (83%). Conclusions: In this pediatric ASD cohort, WES with phenotype-driven reinterpretation and CNV assessment yielded a clinically positive result in 15% of patients and uncovered additional candidate variants, highlighting both the value and the current interpretative challenge of comprehensive genomic testing in ASD. Full article
(This article belongs to the Special Issue Advances in Pediatric Genetic Disorders)
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Review

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13 pages, 656 KB  
Review
Cherubism: An African-Focused Review
by Salma Kabbashi, Imaan A. Roomaney, Martin Douglas-Jones, Karen Fieggen, Nakita Laing, Suvarna Indermun and Manogari Chetty
Children 2026, 13(2), 295; https://doi.org/10.3390/children13020295 - 20 Feb 2026
Viewed by 667
Abstract
Cherubism is a rare fibro-osseous disorder of the jaws that typically presents in early childhood and is recognised as genetically heterogeneous. While the condition is well described in non-African populations, African data and molecular confirmation remain limited. Background/Objectives: This structured narrative review aimed [...] Read more.
Cherubism is a rare fibro-osseous disorder of the jaws that typically presents in early childhood and is recognised as genetically heterogeneous. While the condition is well described in non-African populations, African data and molecular confirmation remain limited. Background/Objectives: This structured narrative review aimed to synthesize published African cases of cherubism by describing patterns of presentation, diagnosis, management, and genetic investigation. Methods: A structured narrative literature review was conducted using PubMed, Scopus, Google Scholar, and African Journals Online. Peer-reviewed case reports and case series describing cherubism in African patients were included. Data extraction followed predefined criteria, capturing demographic features, age at onset and presentation, clinical, radiological and histological findings, management strategies, and the use of molecular genetic testing. Findings were synthesised descriptively. Results: Fourteen studies reporting 20 individual cases from eight African countries were identified, with the majority originating from North Africa. Although symptom onset most commonly occurred in early childhood, the median age at presentation for management was 13.75 years, suggesting delayed access to care. Molecular genetic testing was reported in only two cases, while most diagnoses relied on clinical, radiological, and histopathological features. Surgical intervention was commonly described, with fewer cases managed conservatively. Conclusions: Within the limitations of a structured narrative review based predominantly on published case reports and case series, and constrained by the scarcity of molecularly confirmed cases, the available African literature on cherubism remains limited in scope, geographically skewed, and characterised by incomplete genetic reporting. Recurring features include delayed presentation, reliance on clinical diagnosis, and limited use of molecular testing. These observations reflect gaps in reporting and genetic characterisation rather than population-level patterns, underscoring the need for improved molecular diagnostics, multidisciplinary care, and African registries. Full article
(This article belongs to the Special Issue Advances in Pediatric Genetic Disorders)
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