Iranian Researchers Discover New Effective Genes for Genetics of Intellectual Disability

Wednesday, February 14, 2018 - 12:09

Researchers from the Genetics Research Center (GRC) at the University of Social Welfare and Rehabilitation Sciences in cooperation with Max Planck Institute of Berlin could discover 82 new effective genes in inherited mental disorders.

According to an ISCA report, researchers investigated “Genetics of intellectual disability in consanguineous families,” not only in Iran, but also in international arena.

Based on the research, autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population.

Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind.

Researchers reported on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring.

In 219 of these, they found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID.

The research, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

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