Q Zhang1, S Li, X Guo, L Guo, X Xiao, X Jia, Z Kuang. 1. Ocular Genetics and Molecular Biology, Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China. zoczgj@gzsums.edu.cn
Abstract
PURPOSE: To screen for possible disease-causing mutations in the CRX gene in Chinese patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its mutational phenotype. METHODS: Genomic DNA was collected from 27 patients with LCA. The coding sequences of the CRX gene were analyzed using the PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. RESULTS: We identified two heterozygous variations in the CRX gene in two patients with LCA. One was a deletion (GCC-->-CC, A181D1bp) leading to a frameshift and protein truncation. This mutation was present in a patient with LCA, but not in his healthy parents. The ocular manifestations of this A181Delta1bp mutation are described. An intronic variation (IVS1-13G-->C) was found in a patient with LCA as well as in his healthy father. CONCLUSION: A heterozygous A181D1bp mutation in the CRX gene caused an LCA phenotype in a Chinese patient.
PURPOSE: To screen for possible disease-causing mutations in the CRX gene in Chinese patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its mutational phenotype. METHODS: Genomic DNA was collected from 27 patients with LCA. The coding sequences of the CRX gene were analyzed using the PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. RESULTS: We identified two heterozygous variations in the CRX gene in two patients with LCA. One was a deletion (GCC-->-CC, A181D1bp) leading to a frameshift and protein truncation. This mutation was present in a patient with LCA, but not in his healthy parents. The ocular manifestations of this A181Delta1bp mutation are described. An intronic variation (IVS1-13G-->C) was found in a patient with LCA as well as in his healthy father. CONCLUSION: A heterozygous A181D1bp mutation in the CRX gene caused an LCA phenotype in a Chinese patient.
Authors: Nicholas M Tran; Alan Zhang; Xiaodong Zhang; Julie B Huecker; Anne K Hennig; Shiming Chen Journal: PLoS Genet Date: 2014-02-06 Impact factor: 5.917
Authors: Laurence M Occelli; Nicholas M Tran; Kristina Narfström; Shiming Chen; Simon M Petersen-Jones Journal: Invest Ophthalmol Vis Sci Date: 2016-07-01 Impact factor: 4.799