Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Hum Genet. 2007 Mar;121(1):43-8. doi: 10.1007/s00439-006-0292-0. Epub 2006 Nov 21.

Abstract

Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Consanguinity*
  • Family*
  • Female
  • Genes, Recessive*
  • Genetic Heterogeneity*
  • Genetic Markers
  • Homozygote*
  • Humans
  • Intellectual Disability / genetics*
  • Iran
  • Male
  • Pedigree

Substances

  • Genetic Markers