title: Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
abstract: 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.
authors: The Key Laboratory of Plant Resources and Chemistry of Arid Zone, Xinjiang Technical Institute of Physics and Chemistry, Chinese Academy of Sciences, Urumqi, Xinjiang, China 830011.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Abulikemu
authors: A
authors: Tajiguli
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Mingchu
authors: M
authors: Xu
authors: Department of Ophthalmology, North Huashan Hospital, Fudan University, Shanghai, China 200240.
authors: Qing
authors: Q
authors: Fu
authors: Department of Ophthalmology, Minguang Ophthalmic Hospital, Hotan, Xinjiang, China 848000.
authors: Rouzimaimaiti
authors: R
authors: Yiming
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Keqing
authors: K
authors: Wang
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Yumei
authors: Y
authors: Li
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Aiden
authors: A
authors: Eblimit
authors: Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China 100730.
authors: Ruifang
authors: R
authors: Sui
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Rui
authors: R
authors: Chen
authors: The Key Laboratory of Plant Resources and Chemistry of Arid Zone, Xinjiang Technical Institute of Physics and Chemistry, Chinese Academy of Sciences, Urumqi, Xinjiang, China 830011.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 77030.
authors: Haji Akber
authors: HA
authors: Aisa
mesh_terms: D044466:Asian People / Q000208:ethnology / Q000235:genetics; D002681:China / Q000208:ethnology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology / Q000235:genetics