X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
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.
Vondracek
Petr
P
Department of Pediatric Neurology, University Hospital and Masaryk University, Cernopolni 9, 625 00 Brno, Czech Republic. pvondracek@fnbrno.cz
Seeman
Pavel
P
Hermanova
Marketa
M
Fajkusova
Lenka
L
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012694:Serine / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D007532:Isoleucine; D012694:Serine; D000097002:Gap Junction beta-1 Protein