Clinical phenotype and genotype analysis of the family with the Usher syndrome.
10.3760/cma.j.issn.1003-9406.2020.04.016
- Author:
Changliang LIN
1
;
Yuan LYU
;
Chuang LI
;
Zhitao ZHANG
;
Xinghuo FENG
Author Information
1. Department of Critical Care Medicine, People's Hospital of Liaoning Province, Shenyang, Liaoning 110016, China. wh640219@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Female;
Genetic Variation;
Genotype;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Myosin VIIa;
genetics;
Night Blindness;
etiology;
Pedigree;
Phenotype;
Usher Syndromes;
genetics;
pathology
- From:
Chinese Journal of Medical Genetics
2020;37(4):431-433
- CountryChina
- Language:Chinese
-
Abstract:
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.
