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Published on: March 2, 2018
Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype
1Ocular Genetics and Molecular Biology, Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China. zoczgj@gzsums.edu.cn
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.
