Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3.

Abstract

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Comparative Genomic Hybridization / methods*
  • DNA Copy Number Variations
  • Developmental Disabilities / genetics*
  • Exons
  • Female
  • Gene Dosage
  • Genome, Human / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Phenotype
  • Poland
  • Sequence Deletion