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Genetics of intellectual disability in consanguineous families

Item Type:Article
Title:Genetics of intellectual disability in consanguineous families
Creators Name:Hu, H. and Kahrizi, K. and Musante, L. and Fattahi, Z. and Herwig, R. and Hosseini, M. and Oppitz, C. and Abedini, S.S. and Suckow, V. and Larti, F. and Beheshtian, M. and Lipkowitz, B. and Akhtarkhavari, T. and Mehvari, S. and Otto, S. and Mohseni, M. and Arzhangi, S. and Jamali, P. and Mojahedi, F. and Taghdiri, M. and Papari, E. and Soltani Banavandi, M.J. and Akbari, S. and Tonekaboni, S.H. and Dehghani, H. and Ebrahimpour, M.R. and Bader, I. and Davarnia, B. and Cohen, M. and Khodaei, H. and Albrecht, B. and Azimi, S. and Zirn, B. and Bastami, M. and Wieczorek, D. and Bahrami, G. and Keleman, K. and Vahid, L.N. and Tzschach, A. and Gärtner, J. and Gillessen-Kaesbach, G. and Varaghchi, J.R. and Timmermann, B. and Pourfatemi, F. and Jankhah, A. and Chen, W. and Nikuei, P. and Kalscheuer, V.M. and Oladnabi, M. and Wienker, T.F. and Ropers, H.H. and Najmabadi, H.
Abstract: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. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we 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. This study, 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.
Source:Molecular Psychiatry
ISSN:1359-4184
Publisher:Nature Publishing Group (U.K.)
Date:4 January 2018
Official Publication:https://doi.org/10.1038/s41380-017-0012-2
PubMed:View item in PubMed

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