Mbd5-Related Intellectual Disability In A Vietnamese Child
AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2021)
摘要
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.
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关键词
c.217-1G > C, intellectual disability, MBD5 gene, seizure, splicing site mutation
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