CMT 1A and Hearing Impairment:: caused by a novel Ser112Arg mutation in the PMP2

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J Appl Genet. 2010;51(2):203-9.

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the

PMP22 gene, coexisting with a slowly progressive hearing impairment.

Kabzinska D, Sinkiewicz-Darol E, Hausmanowa-Petrusewicz I, Kochanski A.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of

Sciences, Warsaw, Poland.

Abstract

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