Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.003
Abstract: Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene… read more here.
Keywords: diagnostic exome; intellectual disability; mbd5; disability epilepsy ... See more keywords
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-020-00893-8
Abstract: Whole-exome sequencing (WES) can detect not only single-nucleotide variants in causal genes, but also pathogenic copy-number variations using several methods. However, there may be overlooked pathogenic variations in the out of target genome regions of… read more here.
Keywords: whole genome; long read; deletion; genome sequencing ... See more keywords
Case report of a female with bipolar disorder and MBD5 deletion
Sign Up to like & getrecommendations! Published in 2022 at "Psychiatry and Clinical Neurosciences"
DOI: 10.1111/pcn.13329
Abstract: Bipolar disorder (BD) has a substantial genetic component, but progress in identi fi cation of BD risk genes has been slow. MBD5 (methyl-CpG-binding domain protein 5) is a dosage-sensitive gene on 2q23.1 and is a… read more here.
Keywords: mbd5; report; bipolar disorder; mbd5 deletion ... See more keywords