A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease
| Autor: | G. Sanges, Alfredo Ciccodicola, Simone Sampaolo, G. Di Iorio, A. Ammendola, R. Giugliano, Vittorio Cappa, Michele D'Urso |
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| Přispěvatelé: | DI IORIO, Giuseppe, Cappa, V, Ciccodicola, A, Sampaolo, Simone, Ammendola, A, Sanges, G, Giugliano, R, D'Urso, M. |
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities X Chromosome Genetic Linkage Dermatology Biology Connexins law.invention Exon Sural Nerve Charcot-Marie-Tooth Disease law Humans Coding region Family history education Gene Polymerase chain reaction X chromosome Genetics education.field_of_study Base Sequence General Medicine Molecular biology nervous system diseases Psychiatry and Mental health genomic DNA Mutation Connexin 32 Neurology (clinical) |
| Zdroj: | Neurological Sciences. 21:109-112 |
| ISSN: | 1590-3478 1590-1874 |
| DOI: | 10.1007/s100720070105 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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