Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

• Authors: D. Kabzinska , E. Sinkiewicz-Darol , I. Hausmanowa-Petrusewicz , A. Kochanski
• Languages of publication: EN

Abstracts

EN

Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations

Keywords

EN

CHARCOT-MARIE-TOOTH DISEASE   HEARING LOSS   MUTATION   PMP22 GENE  

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2010
• Volume: 51
• Issue: 2
• Pages: 203-209
• Document Type: ARTICLE
• Publication order reference: A. Kochanski, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, Warsaw, Poland