Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review

J Med Genet. 2019 Sep;56(9):567-573. doi: 10.1136/jmedgenet-2018-105821. Epub 2019 Mar 6.


Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general population. The number of ID-causing genes is high. Many X-linked genes have been implicated in ID. Autosomal dominant genes have recently been the focus of several large-scale studies. The total number of autosomal recessive ID (ARID) genes is estimated to be very high, and most are still unknown. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause ARID has lagged behind, predominantly due to non-availability of sizeable families. A commonly used approach to identify genetic loci for recessive disorders in consanguineous families is autozygosity mapping and whole-exome sequencing. Combination of these two approaches has recently led to identification of many genes involved in ID. These genes have diverse function and control various biological processes. In this review, we will present an update regarding genes that have been recently implicated in ID with focus on ARID.

Keywords: advances; genetics; homozygosity mapping; intellectual disability; whole exome.

Publication types

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

MeSH terms

  • Biomarkers
  • Cytogenetic Analysis
  • Exome Sequencing
  • Genes, Recessive*
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*


  • Biomarkers