DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome

Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29.

Abstract

Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS). In patient 1, the recurrent variant c.1703C>T; p.(P568L) was identified when reconsidering X-linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C>G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T-CS.

Keywords: DDX3X; Toriello-Carey syndrome; exome sequencing; intellectual disability.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis
  • Agenesis of Corpus Callosum / genetics*
  • Agenesis of Corpus Callosum / physiopathology
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / physiopathology
  • DEAD-box RNA Helicases / genetics*
  • Exome / genetics
  • Female
  • Genes, X-Linked
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / physiopathology
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / physiopathology
  • Mutation
  • Phenotype
  • Pierre Robin Syndrome / diagnosis
  • Pierre Robin Syndrome / genetics*
  • Pierre Robin Syndrome / physiopathology
  • Urogenital Abnormalities / diagnosis
  • Urogenital Abnormalities / genetics*
  • Urogenital Abnormalities / physiopathology

Substances

  • DDX3X protein, human
  • DEAD-box RNA Helicases

Supplementary concepts

  • Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence