Journal article

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

Xue Zhong Liu, Dinghua Xie, Hui Jun Yuan, Arjan PM de Brouwer, John Christodoulou, Denise Yan

INTERNATIONAL JOURNAL OF AUDIOLOGY | INFORMA HEALTHCARE | Published : 2013

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..

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