G. Di Iorio et al., A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease, NEUROL SCI, 21(2), 2000, pp. 109-112
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 di
seases. Clinical and electrophysiological examinations of the patient's mot
her and siblings were normal. Molecular analysis by polymerase chain reacti
on - 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 i
n 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.