X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

ABSTRACT:

Objective

To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes.

Methods

The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed.

Results

Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing

SUBMITTER: Zhang X 

PROVIDER: S-EPMC6303895 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature