Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

ABSTRACT:

Objective

The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function.

Design

A literature search of peer-reviewed, published journal articles was conducted in online bibliographic databases.

Study sample

Three databases for medical research were included in this review.

Results

Mutations in PRPS1 are associated with a spectrum of non-syndromic to syndromic hearing loss. Hearing loss in male patients with PRPS1 mutations is bilateral, moderate to profound, and can be prelingual or postlingual, progressive or non-progressive. Audiogram shapes associated with PRPS1 deafness are usually residual and flat. Female carriers can have unilateral or bila

SUBMITTER: Liu XZ 

PROVIDER: S-EPMC4511087 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature