Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay

Eur J Med Genet. Jul-Aug 2010;53(4):217-20. doi: 10.1016/j.ejmg.2010.03.006. Epub 2010 Mar 24.

Abstract

We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Child, Preschool
  • Chromosomes, Human, Pair 2 / genetics*
  • Comparative Genomic Hybridization*
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • NAV1.2 Voltage-Gated Sodium Channel
  • NAV1.3 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis*
  • Phenotype
  • Sequence Deletion / genetics*
  • Sodium Channels / genetics*

Substances

  • NAV1.2 Voltage-Gated Sodium Channel
  • NAV1.3 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN2A protein, human
  • SCN3A protein, human
  • Sodium Channels