Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

ABSTRACT: We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We found a homozygous missense variation of GRIN1 (c.679G>C; p.(Asp227His)) in the two affected sibs, which was inherited from both unaffected heterozygous parents. Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders. The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently publi

SUBMITTER: Rossi M 

PROVIDER: S-EPMC5315503 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature