Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing

Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing Publisher Pubmed

Kahrizi K¹ ; Hu H² ; Hosseini M¹ ; Kalscheuer VM² ; Fattahi Z¹ ; Beheshtian M¹ ; Suckow V² ; Mohseni M¹ ; Lipkowitz B² ; Mehvari S¹ ; Mehrjoo Z¹ ; Akhtarkhavari T¹ ; Ghaderi Z¹ ; Rahimi M¹ Show All Authors

Kahrizi K¹
Hu H²
Hosseini M¹
Kalscheuer VM²
Fattahi Z¹
Beheshtian M¹
Suckow V²
Mohseni M¹
Lipkowitz B²
Mehvari S¹
Mehrjoo Z¹
Akhtarkhavari T¹
Ghaderi Z¹
Rahimi M¹
Arzhangi S¹
Jamali P³
Falahat Chian M¹
Nikuei P⁴
Sabbagh Kermani F⁵
Sadeghinia F¹
Jazayeri R⁶
Tonekaboni SH⁷
Khoshaeen A⁸
Habibi H⁹
Pourfatemi F¹⁰
Mojahedi F¹¹
Khodaieardakani MR¹²
Najafipour R¹³
Wienker TF²
Najmabadi H^{1, 14}
Ropers HH^{2, 15}

Show Affiliations

1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2. Max Planck Institute for Molecular Genetics, Berlin, Germany
3. Shahrood Genetic Counseling Center, Welfare Office, Semnan, Iran
4. Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
5. Clinical Research Unit, Afzalipour Hospital, University of Medical Sciences, Kerman, Iran
6. Department of Biochemistry, Genetic and Nutrition, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
7. Pediatric Neurology Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
8. Genetic Consultant, Sari, Iran
9. Hamedan University of Medical Science, Hamedan, Iran
10. Sari Genetic Counseling Center, Welfare Office, Sari, Iran
11. Mashhad Medical Genetic Counseling Center, Mashhad, Iran
12. Razi Hospital, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
13. Cellular and Molecular Research Centre, Genetic Department, Qazvin University of Medical Sciences, Qazvin, Iran
14. Kariminejad - Najmabadi Pathology and Genetics Center, Tehran, Iran
15. Institute for Human Genetics, University Medicine Mainz, Germany

Source: Clinical Genetics Published:2019

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. Because of 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 because of 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 DNMs. 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 to 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. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

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Style	Citing Format
MLA	Kahrizi K, et al.. "Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing." Clinical Genetics, vol. 95, no. 1, 2019, pp. 151-159.
APA	Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, ... Ropers HH (2019). Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing. Clinical Genetics, 95(1), 151-159.
Chicago	Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, et al.. "Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing." Clinical Genetics 95, no. 1 (2019): 151-159.
Harvard	Kahrizi K et al. (2019) 'Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing', Clinical Genetics, 95(1), pp. 151-159.
Vancouver	Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, et al.. Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing. Clinical Genetics. 2019;95(1):151-159.
BibTex	@article{ author = {Kahrizi K and Hu H and Hosseini M and Kalscheuer VM and Fattahi Z and Beheshtian M and Suckow V and Mohseni M and Lipkowitz B and Mehvari S and Mehrjoo Z and Akhtarkhavari T and Ghaderi Z and Rahimi M and Arzhangi S and Jamali P and Falahat Chian M and Nikuei P and Sabbagh Kermani F and Sadeghinia F and Jazayeri R and Tonekaboni SH and Khoshaeen A and Habibi H and Pourfatemi F and Mojahedi F and Khodaieardakani MR and Najafipour R and Wienker TF and Najmabadi H and Ropers HH}, title = {Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing}, journal = {Clinical Genetics}, volume = {95}, number = {1}, pages = {151-159}, year = {2019} }
RIS	TY - JOUR AU - Kahrizi K AU - Hu H AU - Hosseini M AU - Kalscheuer VM AU - Fattahi Z AU - Beheshtian M AU - Suckow V AU - Mohseni M AU - Lipkowitz B AU - Mehvari S AU - Mehrjoo Z AU - Akhtarkhavari T AU - Ghaderi Z AU - Rahimi M AU - Arzhangi S AU - Jamali P AU - Falahat Chian M AU - Nikuei P AU - Sabbagh Kermani F AU - Sadeghinia F AU - Jazayeri R AU - Tonekaboni SH AU - Khoshaeen A AU - Habibi H AU - Pourfatemi F AU - Mojahedi F AU - Khodaieardakani MR AU - Najafipour R AU - Wienker TF AU - Najmabadi H AU - Ropers HH TI - Effect of Inbreeding on Intellectual Disability Revisited by Trio Sequencing JO - Clinical Genetics VL - 95 IS - 1 SP - 151 EP - 159 PY - 2019 ER -

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