[Clinical phenotype and genotype analysis of the family with the Usher syndrome].

Autor:	Lin C; Department of Critical Care Medicine, People's Hospital of Liaoning Province, Shenyang, Liaoning 110016, China. wh640219@163.com., Lyu Y, Li C, Zhang Z, Feng X
Jazyk:	čínština
Zdroj:	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Apr 10; Vol. 37 (4), pp. 431-433.
DOI:	10.3760/cma.j.issn.1003-9406.2020.04.016
Abstrakt:	Objective: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. Methods: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. Results: The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal. Conclusion: The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Databáze:	MEDLINE
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