Article
Genetics of intellectual disability in consanguineous families.
Molecular psychiatry - 1 Jul 2019
Hu Hao, Kahrizi Kimia, Musante Luciana, Fattahi Zohreh, Herwig Ralf, Hosseini Masoumeh, Oppitz Cornelia, Abedini Seyedeh Sedigheh, Suckow Vanessa, Larti Farzaneh, Beheshtian Maryam, Lipkowitz Bettina, Akhtarkhavari Tara, Mehvari Sepideh, Otto Sabine, Mohseni Marzieh, Arzhangi Sanaz, Jamali Payman, Mojahedi Faezeh, Taghdiri Maryam, Papari Elaheh, Soltani Banavandi Mohammad Javad, Akbari Saeide, Tonekaboni Seyed Hassan, Dehghani Hossein, Ebrahimpour Mohammad Reza, Bader Ingrid, Davarnia Behzad, Cohen Monika, Khodaei Hossein, Albrecht Beate, Azimi Sarah, Zirn Birgit, Bastami Milad, Wieczorek Dagmar, Bahrami Gholamreza, Keleman Krystyna, Vahid Leila Nouri, Tzschach Andreas, Gärtner Jutta, Gillessen-Kaesbach Gabriele, Varaghchi Jamileh Rezazadeh, Timmermann Bernd, Pourfatemi Fatemeh, Jankhah Aria, Chen Wei, Nikuei Pooneh, Kalscheuer Vera M, Oladnabi Morteza, Wienker Thomas F, Ropers Hans-Hilger, Najmabadi Hossein
Abstract excerpt
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...
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