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.
- intellectual disability
- whole exome
- homozygosity mapping
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Contributors YR and RAHK contribute equally to the manuscript. Both YR and RAHK planned the review, collected all of the literature, assembled the information and wrote the review.
Funding Laboratory of RAHK was supported by UGC Start Up grant, New Delhi, India.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Not required.
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