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 bilateral hearing impairment. Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5). CONCLUSIONS:Lower residual activity in PRS-I leads to a more severe clinical manifestation. Clinical and molecular findings suggest that the four PRPS1 disorders discovered to date belong to the same disease spectrum. Dietary supplementation with S-adenosylmethionine (SAM) appeared to alleviate the symptoms of Arts syndrome patients, suggesting that SAM could compensate for PRS-I deficiency.

journal_name

Int J Audiol

authors

Liu XZ,Xie D,Yuan HJ,de Brouwer AP,Christodoulou J,Yan D

doi

10.3109/14992027.2012.736032

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

23-8

issue

1

eissn

1499-2027

issn

1708-8186

journal_volume

52

pub_type

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