CMT 1A Mutation with Deafness from Korea

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From Neuromuscul Disord. 2004 May;14(5):325-8.

A novel point mutation in PMP22 gene associated with a familial case of

Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

Joo IS, Ki CS, Joo SY, Huh K, Kim JW.

Department of Neurology, Ajou University School of Medicine, Suwon,

South Korea.

Charcot-Marie-Tooth disease with deafness is a clinically distinct

entity and is associated with mutations or deletions in several genes

including PMP22 gene. Here, we report a large family showing

characteristic phenotypes of Charcot-Marie-Tooth type 1A along with

deafness in an autosomal dominant fashion. We detected a sequence

variation (c.68C>G) co-segregating with the disease phenotype and

leading to a T23R missense mutation in PMP22.