A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.

ABSTRACT:

Objective

Variants of the proto-cadherin 15 (PCDH15) gene are related to Usher syndrome type 1F (USH1F). The purpose of this study was to determine the genetic etiology of a USH1F family in China and to perform a minigene assay for the PCDH15 gene to explore the effect of variation on splicing and determine the pathogenicity of the identified variant.

Methods

Targeted next-generation sequencing of 127 hearing loss-related genes was performed for a 26-year-old proband to identify the candidate variants. Then, multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were performed for all family members to confirm the variants. Further, to verify the pathogenicity of the intronic variant, a minigene splicing assay was performed.

Results

Compound het

SUBMITTER: Ma Q 

PROVIDER: S-EPMC12788178 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature