MBD5‐related intellectual disability in a Vietnamese child

Abstract

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.

A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

“…The supporting information can be downloaded at: , References [ 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 ] are cited in the supplementary materials (Table S1).…”