Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

ABSTRACT:

Background

Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communication. Usher syndrome patients with early onset deafness also experience vision loss due to progressive retinitis pigmentosa that can lead to legal blindness in their third or fourth decade.

Methods

Using a multi-omic approach, we identified three novel pathogenic variants in two Usher syndrome genes (USH2A and ADGRV1) in cases initially referred for isolated vision or hearing loss.

Results

In a multiplex hearing loss family, two affected sisters, the product of a second cousin union, are homozygous for a novel nonsense pathogenic variant in ADGRV1 (c

SUBMITTER: Pater JA 

PROVIDER: S-EPMC6498547 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature