Clinical phenotype and genotype analysis of the family with the Usher syndrome / 中华医学遗传学杂志

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.