Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

被引：17

作者：

Tajiguli, Abulikemu ^{[1
,2
]}

Xu, Mingchu ^{[2
,3
]}

Fu, Qing ^{[4
]}

Yiming, Rouzimaimaiti ^{[5
]}

Wang, Keqing ^{[2
,3
]}

Li, Yumei ^{[2
,3
]}

Eblimit, Aiden ^{[2
,3
]}

Sui, Ruifang ^{[6
]}

Chen, Rui ^{[2
,3
]}

Aisa, Haji Akber ^{[1
,2
]}

机构：

[1] Chinese Acad Sci, Xinjiang Tech Inst Phys & Chem, Key Lab Plant Resources & Chem Arid Zone, Urumqi 830011, Xinjiang, Peoples R China

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[4] Fudan Univ, Dept Ophthalmol, North Huashan Hosp, Shanghai 200240, Peoples R China

[5] Minguang Ophthalm Hosp, Dept Ophthalmol, Hotan 848000, Xinjiang, Peoples R China

[6] Chinese Acad Med Sci, Dept Ophthalmol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing 100730, Peoples R China

来源：

SCIENTIFIC REPORTS | 2016年 / 6卷

关键词：

MISSENSE MUTATION; GENE; IDENTIFICATION; ADMIXTURE; VARIANT;

D O I：

10.1038/srep21384

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Inherited retinal disease (IRD) is a category of genetic disorders affecting retina. Understanding the molecular basis of IRD is vital for clinical and genetic classification of patients. Uyghur people is an isolated ethnic group mainly residing in northwestern China with genetic admixture from Europeans and East Asians. The genetic etiology of IRD in this specific population still remains unknown. Here, by next-generation sequencing (NGS), we screened mutations in over 200 known retinal disease genes in a cohort of 12 unrelated Uyghur IRD probands. Out of the 12 probands, six are solved with high confidence, two with low confidence, while the remaining four are unsolved. We identified known disease-causing alleles in this cohort that suggest ancient Uyghur migration and also discovered eight novel disease-associated variants. Our results showed NGS-based mutation screening as a reliable approach for molecular diagnosis. In addition, this approach can also be applied to reveal the genetic history of a specific ethnic group.

引用

页数：8

共 26 条

[1] Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases [J].

Abid, A ;

Ismail, M ;

Mehdi, SQ ;

Khaliq, S .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (04) :378-381

[2] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[3] Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping [J].

Beryozkin, Avigail ;

Zelinger, Lina ;

Bandah-Rozenfeld, Dikla ;

Shevach, Elia ;

Harel, Anat ;

Storm, Tim ;

Sagi, Michal ;

Eli, Dalia ;

Merin, Saul ;

Banin, Eyal ;

Sharon, Dror .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (02) :1149-1160

[4] Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis [J].

den Hollander, Anneke I. ;

Koenekoop, Robert K. ;

Yzer, Suzanne ;

Lopez, Irma ;

Arends, Maarten L. ;

Voesenek, Krysta E. J. ;

Zonneveld, Marijke N. ;

Strom, Tim M. ;

Meitinger, Thomas ;

Brunner, Han G. ;

Hoyng, Carel B. ;

van den Born, L. Ingeborgh ;

Rohrschneider, Klaus ;

Cremers, Frans P. M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (03) :556-561

[5] De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis [J].

Freund, CL ;

Wang, QL ;

Chen, SM ;

Muskat, BL ;

Wiles, CD ;

Sheffield, VC ;

Jacobson, SG ;

McInnes, RR ;

Zack, DJ ;

Stone, EM .

NATURE GENETICS, 1998, 18 (04) :311-312

[6] Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies [J].

Gloeckle, Nicola ;

Kohl, Susanne ;

Mohr, Julia ;

Scheurenbrand, Tim ;

Sprecher, Andrea ;

Weisschuh, Nicole ;

Bernd, Antje ;

Rudolph, Guenther ;

Schubach, Max ;

Poloschek, Charlotte ;

Zrenner, Eberhart ;

Biskup, Saskia ;

Berger, Wolfgang ;

Wissinger, Bernd ;

Neidhardt, John .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (01) :99-104

[7] RETURN TO CHINAS NORTHERN FRONTIER [J].

LATTIMORE, O .

GEOGRAPHICAL JOURNAL, 1973, 139 (JUN) :233-242

[8] Fast and accurate short read alignment with Burrows-Wheeler transform [J].

Li, Heng ;

Durbin, Richard .

BIOINFORMATICS, 2009, 25 (14) :1754-1760

[9] Genetic Landscape of Eurasia and "Admixture" in Uyghurs [J].

Li, Hui ;

Cho, Kelly ;

Kidd, Judith R. ;

Kidd, Kenneth K. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (06) :934-937

[10] Influences of APOA5 Variants on Plasma Triglyceride Levels in Uyghur Population [J].

Li, Shuyuan ;

Hu, Bin ;

Wang, Yi ;

Wu, Di ;

Jin, Li ;

Wang, Xiaofeng .

PLOS ONE, 2014, 9 (10)

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