A family with X-linked dominant Charcot–Marie–Tooth caused by a connexin32 mutation

• Published in: European journal of paediatric neurology Vol. 4; no. 5; pp. 235 - 238
• Main Authors: Verhelst, Helene E, Lofgren, Ann, Van Coster, Rudy N
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 2000
• Subjects: Adolescent; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - physiopathology; Child; CMTX, Connexin32, Axonal neuropathy; Connexins - genetics; Female; Gap Junction beta-1 Protein; Genetic Linkage - genetics; Genotype; Humans; Male; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Polyneuropathies - physiopathology; X Chromosome; CMTX, Connexin32, Axonal neuropathy
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1053/ejpn.2000.0311

A family with a hereditary peripheral neuropathy is presented. Pedigree analysis suggested X-linked dominant mode of inheritance. The index patient became symptomatic at the age of 12 years. Clinical examination at 14 years revealed footdrop on the left, bilateral pes cavus, slight atrophy of thenar eminences, decreased muscle strength in both legs and brisk deep tendon reflexes. Electrophysiological studies were compatible with an axonal neuropathy. A novel point mutation located in codon 126 of the connexin32 gene, substituting a histidine for a tyrosine, was found in the index patient, in the mother, in two sisters and in a brother. The mother and the eldest sister had pes cavus bilaterally although they were asymptomatic. The younger brother and sister showed no signs of the disease.