A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease

Citation
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
Citations number
13
Categorie Soggetti
Neurology
Journal title
NEUROLOGICAL SCIENCES
ISSN journal
15901874 → ACNP
Volume
21
Issue
2
Year of publication
2000
Pages
109 - 112
Database
ISI
SICI code
1590-1874(200004)21:2<109:ANDNMO>2.0.ZU;2-C
Abstract
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.