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.
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 PRPS1deafness 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 syndromepatients, suggesting that SAM could compensate for PRS-I deficiency.
Authors: Marta Gandía; Joaquín Fernández-Toral; Juan Solanellas; María Domínguez-Ruiz; Elena Gómez-Rosas; Francisco J Del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; Ignacio Del Castillo Journal: Pediatr Res Date: 2015-03-18 Impact factor: 3.756
Authors: Jia Y Wan; Christina Cataby; Andrew Liem; Emily Jeffrey; Trina M Norden-Krichmar; Deborah Goodman; Stephanie A Santorico; Karen L Edwards Journal: Hear Res Date: 2019-12-24 Impact factor: 3.208
Authors: Matthis Synofzik; Jennifer Müller vom Hagen; Tobias B Haack; Christian Wilhelm; Tobias Lindig; Stefanie Beck-Wödl; Sander B Nabuurs; André B P van Kuilenburg; Arjan P M de Brouwer; Ludger Schöls Journal: Orphanet J Rare Dis Date: 2014-02-14 Impact factor: 4.123
Authors: Wuhong Pei; Lisha Xu; Gaurav K Varshney; Blake Carrington; Kevin Bishop; MaryPat Jones; Sunny C Huang; Jennifer Idol; Pamela R Pretorius; Alisha Beirl; Lisa A Schimmenti; Katie S Kindt; Raman Sood; Shawn M Burgess Journal: Sci Rep Date: 2016-07-18 Impact factor: 4.379