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Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.

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.

journal_name

J Dermatol Sci

journal_title

Journal of dermatological science

authors

Minami M,Urano Y,Ishigami T,Tsuda H,Kusaka J,Arase S

doi

10.1016/s0923-1811(01)00104-9

subject

Has Abstract

pub_date

2001-09-01 00:00:00

pages

21-6

issue

1

eissn

0923-1811

issn

1873-569X

pii

S0923-1811(01)00104-9

journal_volume

27

pub_type

杂志文章

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