Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa |
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| Authors: | Yukan Huang Jing Zhang Chang Li Guohua Yang Mugen Liu Qing K Wang Zhaohui Tang |
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| Affiliation: | (1) Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, PR China;(2) Union Hospital, Huazhong University of Science and Technology, Wuhan, Hubei, PR China;(3) Department of Genetics, School of Basic Medical Science, Wuhan University, Wuhan, Hubei, PR China |
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| Abstract: | Background Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and genetic heterogeneity. More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP), but the gene(s) causing arRP in most families has yet to be identified. The purpose of this study is to identify the genetic basis of severe arRP in a consanguineous Chinese family. |
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