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MBD5‐ related intellectual disability in a Vietnamese child
Author(s) -
Le Thanh Nha Uyen,
Ha Thi Minh Thi
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62077
Subject(s) - intellectual disability , vietnamese , rna splicing , genetics , phenotype , genetic counseling , mutation , medicine , gene , neurodevelopmental disorder , intron , bioinformatics , biology , rna , philosophy , linguistics
The disruption of methyl‐binding domain protein 5 ( MBD5 ) gene has been determined as a significant cause of a group of disorders known as MBD5‐associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.217‐1G>C, occurring at the acceptor splicing site of intron 6 of the MBD5 gene identified in a Vietnamese child with intellectual disability, autistic‐like behaviors, and seizure. Phenotypic manifestations in this patient are highlighted with neurodevelopmental impairments whereas his facial dysmorphism is unremarkable. Our finding has enriched the understanding of the spectrum of MBD5 variants, a critical database for diagnosis, genetic counseling, and management of the patients with neurological diseases.