Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Congenit Anom (Kyoto). 2018 Nov;58(6):188-190. doi:10.1111/cga.12273. Epub 2018 Feb 13

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摘要

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.

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Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

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