A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms

We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8‐year‐old boy with intellectual disability (ID), autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of ID in this patient.

Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Yuichi Kimura, Moe Akahira ‐Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa Tags: Consensus Report Source Type: research