Hereditary Eye Disease in Ningxia Hui Autonomous Region of China
Ningxia Hui Autonomous Region is the main gathering region of Hui nationality in China. Because of unique geographical environment and national characteristics, the incidence of hereditary eye disease is higher in Ningxia Region. From 2010 to 2017, our research team collected 230 pedigrees and 268 sporadic patients with monogenic hereditary eye disease, including 210 pedigrees and 250 sporadic patients with hereditary retinal diseases. Among these pedigrees, 89 (42%) families reported a family history of consanguinity. We carried genetic research on 113 pedigrees and 154 sporadic patients with hereditary retinal diseases. The disease-causing mutations were identified in 66 pedigrees and 69 sporadic patients. Total 63 related disease-causing genes were involved. Four new disease-causing genes were discovered through whole exome sequencing combined with a series of cell experiments and animal experiments, including GUCA1A gene that causes central areolar choroidal dystrophy, CCT2 gene that causes Leber congenital amaurosis, CEP78 gene that causes Usher syndrome, and PRPF4 gene that causes autosomal dominant retinitis pigmentosa. Through whole exome sequencing, we confirmed the clinical diagnosis of combined Marfan syndrome with X-linked hypophosphatemia in a pedigree with complex phenotypes. The homozygous mutation of BEST1 gene was found in a consanguineous family with complicated phenotype, and the diagnosis of autosomal recessive bestrophinopathy (ARB) was made.
KeywordsNingxia Ocular disease Genetic Gene Mutation Consanguineous marriage
Conflict of Interest
The authors declare that they have no conflict of interest.
Compliance with Ethical Requirements
In our study, all procedures followed were in accordance with the ethical standards of the Committee of Ningxia People’s Hospital on human experimentation and with the Helsinki Declaration of 1975, as revised in 2010.
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