CTNND2 deletion and intellectual disability

Gene. 2015 Jul 1;565(1):146-9. doi: 10.1016/j.gene.2015.03.054. Epub 2015 Apr 1.

Abstract

Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.

Keywords: CNV; CTNND2; Deletion; Disability; Intellectual.

Publication types

  • Case Reports

MeSH terms

  • Catenins / genetics*
  • Chromosomes, Human, Pair 5 / genetics
  • Gene Deletion
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Karyotyping
  • Male
  • Oligonucleotide Array Sequence Analysis

Substances

  • Catenins
  • delta catenin