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Titre : | Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy (2013) |
Auteurs : | Zhong Liu ; Dinghua Xie ; Jun Yuan Hui |
Type de document : | Article |
Dans : | International Journal of Audiology IJA (Vol.52, n°1, January 2013) |
Langues: | Anglais |
Résumé : | 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. |
Disponible en ligne : | Oui |
En ligne : | https://login.ezproxy.vinci.be/login?url=https://www.tandfonline.com/doi/full/10.3109/14992027.2012.736032 |
Exemplaires (1)
Cote | Support | Localisation | Section | Disponibilité |
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International journal of audiology IJA. Vol.52, n°1 (January 2013) | Périodique papier | Ixelles | Rez | Consultation sur place uniquement Exclu du prêt |