X-linked Charcot-Marie-Tooth disease and connexin32.
We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations showed a mild clinical phenotype and slowing of motor nerve conduction velocities. All five nonsense mutations, the larger deletion and the insertion showed severe clinical phenotype. Four CMTX1 families with mild clinical phenotype showed no point mutations of the Cx32 gene coding region. Two mutations of the non-coding region were identified. The first mutation was located in the nerve specific Cx32 promoter, the second mutation was located in the 5' untranslated region of the mRNA.
Ionasescu
V V
VV
Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.
D017668:Age of Onset; D000595:Amino Acid Sequence / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D018389:Codon, Nonsense / Q000235:genetics; D017630:Connexins / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000503:physiopathology; D010641:Phenotype; D012727:Sex Characteristics; D014960:X Chromosome / Q000235:genetics*; D000097002:Gap Junction beta-1 Protein
D018389:Codon, Nonsense; D017630:Connexins; D000097002:Gap Junction beta-1 Protein