Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

Aims: The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4).

Methods: Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing.

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

Purpose: To explore the genetic etiology of deafness in a dominant family with late-onset, progressive, nonsyndromic hearing loss.

Methods: Genome-wide linkage analysis was performed for 21 family members. Candidate pathogenic variants were identified by whole-exome sequencing of selected family members and confirmed by Sanger sequencing of all family members.