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
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..View full abstract
Awarded by NIH
Awarded by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
This work was supported by NIH grants NIH DC05575 and DC012546, Hurong Research Scholar Award, and Oversea Chinese Research Scholar Award from the NNSF of China to XZL.