Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
J Dermatol Sci
; 27(1): 21-6, 2001 Sep.
Article
en En
| MEDLINE
| ID: mdl-11457640
ABSTRACT
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental and skeletal anomalies, palmo-plantar pits, odontogenic keratocysts, ectopic calcification, and occurrence of various types of tumors including basal cell carcinoma. Recent evidence has indicated that the human homologue of a Drosophila segment polarity gene, PTCH, is a NBCCS susceptibility gene. In the study presented here, we detected two novel mutations of the PTCH gene, I805X/2395delC and Y93X/C297A, in two unrelated Japanese patients. Early protection of the skin from the sunlight is important to the prevention of BCC development in NBCCS patients. Genetic analysis of the PTCH gene is essential for the early, definitive diagnosis of NBCCS, especially before the expression of clinical manifestations is complete.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome del Nevo Basocelular
/
Mutación de Línea Germinal
/
Proteínas de la Membrana
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Dermatol Sci
Asunto de la revista:
DERMATOLOGIA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Japón