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Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms
Author(s) -
Kimura Yuichi,
AkahiraAzuma Moe,
Harada Noriaki,
Enomoto Yumi,
Tsurusaki Yoshinori,
Kurosawa Kenji
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12273
Subject(s) - intellectual disability , autism spectrum disorder , autism , medicine , pediatrics , psychology , psychiatry
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, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of intellectual disability in this patient.