A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
We report a 26-year-old Italian man with X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMT-X1) and a negative family history for neuromuscular diseases. Clinical and electrophysiological examinations of the patient's mother and siblings were normal. Molecular analysis by polymerase chain reaction--single-strand conformation polymorphism (PCR-SSCP) on genomic DNA from the patient and all members of his family revealed a C-to-T transition in codon 8 of exon 2 of the connexin-32 (Cx32) gene on the X chromosome only in the patient. This transition in the 5'-coding region, resulting in a Thr-Ile substitution, is likely to be the cause of CMT phenotype in our patient, and it represents a new de novo mutation of the Cx32 gene.
Di Iorio
G
G
Institute of Neurological Sciences, Second University of Naples, Italy.
Cappa
V
V
Ciccodicola
A
A
Sampaolo
S
S
Ammendola
A
A
Sanges
G
G
Giugliano
R
R
D'Urso
M
M
D000328:Adult; D001483:Base Sequence / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D017630:Connexins / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein