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Article

Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.

Laboratory medicine - 7 Mar 2024

Mir Atefeh, Song Yongjun, Lee Hane, Nadeali Zakiye, Akbarian Fahimeh, Tabatabaiefar Mohammad Amin

Abstract excerpt

OBJECTIVE: Intellectual developmental disorder (IDD) type 5 is an autosomal dominant (AD) disorder and is characterized by intellectual disability (ID), psychomotor developmental delay, variable autism phenotypes, microcephaly, and seizure. IDD can be caused by mutations in the SYNGAP1 gene, which encodes a Ras GTPase-activating protein. This study revealed a novel de novo nonsense variant in SYNGAP1. The...

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PMID: 37467311
DOI: 10.1093/labmed/lmad064

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