MBD5‐related intellectual disability in a Vietnamese child

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1321-1323
Main Authors: Le, Thanh Nha Uyen, Ha, Thi Minh Thi
Format: Article
Language:English
Subjects:
Autism
c.217‐1G>C
Genetic counseling
Intellectual disabilities
intellectual disability
MBD5 gene
Neurodevelopmental disorders
Neurological diseases
seizure
Seizures
splicing site mutation
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62077