Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Exome sequencing
Mutation screening
Neurodevelopmental disorders
Journal
Molecular genetics and genomics : MGG
ISSN: 1617-4623
Titre abrégé: Mol Genet Genomics
Pays: Germany
ID NLM: 101093320
Informations de publication
Date de publication:
21 May 2024
21 May 2024
Historique:
received:
19
11
2023
accepted:
30
04
2024
medline:
21
5
2024
pubmed:
21
5
2024
entrez:
21
5
2024
Statut:
epublish
Résumé
Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in RELN and three recurrent variants in VPS13B, DEGS1, and SPG11. Overall, our study highlights the potential of ES as a tool for clinical diagnosis.
Identifiants
pubmed: 38771357
doi: 10.1007/s00438-024-02149-y
pii: 10.1007/s00438-024-02149-y
doi:
Substances chimiques
VPS13B protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
55Subventions
Organisme : Higher Education Commision, Pakistan
ID : NRPU 20-12107
Organisme : Higher Education Commision, Pakistan
ID : NRPU 20-16914
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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