X-linked CMT disease: Phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.

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Abstract from Muscle Nerve. 2004 Oct 1

X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel

mutation Ile127Ser in the GJB1 (connexin 32) gene.

Vondracek P, Seeman P, Hermanova M, Fajkusova L.

Department of Pediatric Neurology, University Hospital and Masaryk

University, Cernopolni 9, 625 00 Brno, Czech Republic.

We report a family with X-linked dominant Charcot-Marie-Tooth disease

(CMTX1). Three affected family members are described, who underwent

detailed clinical, electrophysiological, molecular genetic, and

histopathological studies. A novel isoleucine at position 127 with

serine (Ile127Ser) mutation in the gap junction protein beta 1 (GJB1)

gene was detected. The electrophysiological findings were consistent

with a primary demyelinating neuropathy with secondary axonal loss and

support this model of disease progression. All patients having the CMT

phenotype and intermediate conduction velocities who are negative for

CMT1A duplication/hereditary neuropathy with liability to pressure

palsies (HNPP) deletion, and whose family shows a dominant trait without

male-to-male transmission, should be screened for CMTX1.