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  Genetics of intellectual disability in consanguineous families

Hu, H., Kahrizi, K., Musante, L., Fattahi, Z., Herwig, R., Hosseini, M., et al. (2018). Genetics of intellectual disability in consanguineous families. Molecular Psychiatry, 2018. doi:10.1038/s41380-017-0012-2.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-6388-7 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-C667-D
Genre: Journal Article

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Hu, Hao1, Author              
Kahrizi, Kimia , Author
Musante, Luciana2, Author              
Fattahi, Zohreh , Author
Herwig, Ralf3, Author              
Hosseini, Masoumeh , Author
Oppitz, Cornelia , Author
Abedini, Seyedeh Sedigheh , Author
Suckow, Vanessa4, Author              
Farzaneh, Larti, Author
Beheshtian, Maryam , Author
Lipkowitz, Bettina2, Author              
Akhtarkhavari, Tara, Author
Mehvari, Sepideh, Author
Otto, Sabine5, Author              
Mohseni, Marzieh , Author
Arzhangi, Sanaz , Author
Jamali, Payman , Author
Mojahedi, Faezeh , Author
Taghdiri, Maryam , Author
Papari, Elaheh , AuthorSoltani Banavandi, Mohammad Javad , AuthorAkbari, Saeide , AuthorTonekaboni, Seyed Hassan , AuthorDehghani, Hossein , AuthorEbrahimpou, Mohammad Reza , AuthorBader, Ingrid, AuthorDavarnia, Behzad , AuthorCohen, Monika, AuthorKhodaei, Hossein , AuthorAlbrecht, Beate, AuthorAzimi, Sarah, AuthorZirn, Birgit, AuthorBastami, Milad , AuthorWieczorek, Dagmar , AuthorBahrami, Gholamreza , AuthorKeleman, Krystyna , AuthorVahid, Leila Nouri , AuthorTimmermann, Bernd6, Author              Pourfatemi, Fatemeh , AuthorJankhah, Aria , AuthorChen, Wei, AuthorNikuei, Pooneh , AuthorKalscheuer, Vera M.7, Author              Oladnabi, Morteza , AuthorWienker, Thomas F.8, Author              Ropers, Hans-Hilger9, Author              Najmabadi, Hossein , Author more..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
3Bioinformatics (Ralf Herwig), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385701              
4Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
5Dept. of Genome Regulation (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2379694              
6Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              
7Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              
8Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              
9Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              

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 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.

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Language(s): eng - English
 Dates: 2017-10-302018-01-04
 Publication Status: Published online
 Pages: 13
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/s41380-017-0012-2
 Degree: -

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Title: Molecular Psychiatry
Source Genre: Journal
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Publ. Info: Houndmills, Hampshire, UK : Stockton Press
Pages: - Volume / Issue: 2018 Sequence Number: - Start / End Page: - Identifier: ISSN: 1359-4184
CoNE: /journals/resource/954925619131