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): 109-12, 2000 Apr.
Article
em En
| MEDLINE
| ID: mdl-10938190
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 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.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Doença de Charcot-Marie-Tooth
/
Conexinas
/
Ligação Genética
/
Mutação
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Neurol Sci
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Itália