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  Effect of inbreeding on intellectual disability revisited by Trio sequencing

Kahrizi, K., Hu, H., Hosseini, M., Kalscheuer, V. M., Fattahi, Z., Beheshtian, M., et al. (2019). Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine, 95(1), 151-159. doi:10.1111/cge.13463.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-5F64-4 Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E1ED-5
Genre: Journal Article

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 Creators:
Kahrizi, Kimia , Author
Hu, Hao, Author
Hosseini, Masoumeh, Author
Kalscheuer, Vera M.1, Author              
Fattahi, Zohreh, Author
Beheshtian, Maryam , Author
Suckow, Vanessa2, Author              
Mohseni, Marzieh , Author
Lipkowitz, Bettina3, Author              
Mehvari, Sepideh , Author
Mehrjoo, Zohreh, Author
Akhtarkhavari, Tara, Author
Ghaderi, Zhila, Author
Rahimi, Maryam , Author
Arzhangi, Sanaz , Author
Jamali, Payman, Author
Falahat Chian, Milad, Author
Nikuei , Pooneh , Author
Sabbagh Kermani, Farahnaz, Author
Sadeghinia, Farnaz , Author
Jazayeri , Roshanak, AuthorTonekaboni, Seyed Hassan , AuthorKhoshaeen, Atefeh, AuthorHabibi, Haleh, AuthorPourfatemi, Fatemeh, AuthorMojahedi , Faezeh, AuthorKhodaie‐Ardakani, Mohammad‐Reza, AuthorNajafipour, Reza, AuthorWienker, Thomas F.4, Author              Najmabadi , Hossein , AuthorRopers, Hans-Hilger5, Author               more..
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
3Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              
4Clinical 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              
5Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              

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Free keywords: intellectual disability risks, parental consanguinity, whole exome sequencing, parent-patient trios, impact of inherited and de novo mutations
 Abstract: In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) is very rare. Due to the high rate of parental consanguinity which raises the risk for ARID and other recessive disorders, the prevalence of ID is significantly higher in Near- and Middle-East countries. Indeed, homozygosity mapping and sequencing in consanguineous families have already identified a plethora of ARID genes, but due to the design of these studies, DNMs could not be systematically assessed, and the proportion of cases that are potentially preventable by avoiding consanguineous marriages or through carrier testing is hitherto unknown. This prompted us to perform whole exome sequencing in 100 sporadic ID patients from Iran and their healthy consanguineous parents. In 61 patients, we identified apparently causative changes in known ID genes. Of these, 44 were homozygous recessive and 17 dominant de novo mutations. Assuming that the DNM rate is stable, these results suggest that parental consanguinity raises the ID risk about 3.6-fold, and about 4.1-4.25-fold for children of first-cousin unions. These results do not rhyme with recent opinions that consanguinity-related health risks are generally small and have been 'overstated' in the past. This article is protected by copyright. All rights reserved.

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Language(s): eng - English
 Dates: 2018-10-122019-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1111/cge.13463
 Degree: -

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Title: Clinical Genetics: an international journal of genetics in medicine
  Other : Clin. Genet.
Source Genre: Journal
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Publ. Info: Copenhagen : Munksgaard.
Pages: 9 Volume / Issue: 95 (1) Sequence Number: - Start / End Page: 151 - 159 Identifier: ISSN: 0009-9163
CoNE: https://pure.mpg.de/cone/journals/resource/954925391292