Abstract
Purpose :
Usher syndrome (USH) is a rare genetic disease characterized by sensorineural deafness and blindness called retinitis pigmentosa, and it is inherited in an autosomal recessive pattern with a prevalence of 4–17 per 100,000 people worldwide. In this study, we attempted to identify pathogenic mutations in a consanguineous Chinese family with USH, including two affected individuals and five unaffected individuals,
Methods :
Ophthalmic examination and an auditory examination were performed for all individuals in this family. DNAs were extracted from white blood cells from all family members. DNAs from the affected members were subjected to whole exome sequencing.
Identified USH-associated mutations were verified by Sanger Sequencing.
Results :
A novel homozygous frameshift mutation (NM_206933.4:c.6379_6380delinsC, p.G2127Pfs*25) in USH2A, resulting in a truncated USH2A protein lacking 3051 amino acids, which was identified in the proband. In addition, novel compound mutations in USH2A (one allele harboring NM_206933.4:c.9958G>T, p.G3320C; NM_206933.4:c.8284C>G, p.P2762A; and the other NM_206933.4:c.6379_6380delinsC; p.G2127Pfs*25) were identified in the other affected individual.
Conclusions :
Novel USH mutations in USH2A are identified, which expands the spectrum of disease-associated variants in the USH2A gene, and promotes the molecular screening of genetic mutations in USH patients.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.