Spectrum of PTCH1 mutations in French patients with Gorlin syndrome
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome
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DOI：
10.1046/j.1523-1747.2003.12423.x
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发表时间：
2003-09-01
影响因子：
6.5
通讯作者：
Gorry, P
中科院分区：
文献类型：
--
作者：
Boutet, N;Bignon, YJ;Gorry, P
Gorlin综合征或瘤状基底细胞癌综合征是一种常染色体显性遗传病，其特征是发育异常和易患癌症。导致这种综合征的基因是编码Sonic Hedgehog受体的PTCH肿瘤抑制基因。我们首次在65个法国戈林综合征家族或散发病例中筛选PTCH突变。在这组患者中发现了19个新的突变和5个新的多态性。一个没有移码的微缺失强调了一个氨基酸对Ptc受体功能的重要性。虽然没有突变热点被描述，我们确定了一个复发突变。
Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant disease characterized by developmental abnormalities and a predisposition to cancers. The responsible gene for this syndrome is the PTCH tumor suppressor gene encoding for the Sonic Hedgehog receptor. We screened for PTCH mutations in 65 French Gorlin syndrome families or sporadic cases for the first time. Nineteen novel mutations and five new polymorphisms were identified in this group of patients. One microdeletion without frameshift underlines the importance of one amino acid for Ptc receptor function. Although no mutation hot-spot was described, we identified a recurrent mutation.