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.

Abstract

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.

Keywords: SYNGAP1; intellectual disability; targeted resequencing.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Amino Acid Substitution
  • Child
  • DNA Mutational Analysis
  • Facies
  • Genetic Association Studies*
  • Genetic Loci
  • Genetic Variation*
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Male
  • Phenotype*
  • ras GTPase-Activating Proteins / genetics*

Substances

  • SYNGAP1 protein, human
  • ras GTPase-Activating Proteins