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X‐linked Charcot–Marie–Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
Author(s) -
Vondracek Petr,
Seeman Pavel,
Hermanova Marketa,
Fajkusova Lenka
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20166
Subject(s) - connexin 32 , phenotype , mutation , tooth disease , peripheral myelin protein 22 , genetics , hereditary motor and sensory neuropathy , gene duplication , pes cavus , biology , disease , sural nerve , connexin , pathology , gene , medicine , gap junction , complication , intracellular
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. Muscle Nerve, 2004