Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
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DOI：
10.1136/jmg.2005.036830
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发表时间：
2006-04-01
影响因子：
4
通讯作者：
Houlston, RS
中科院分区：
文献类型：
--
作者：
Hearle, NCM;Rudd, MF;Houlston, RS
背景：Peutz-Jeghers综合征(PJS)是一种罕见的常染色体显性遗传癌症易感综合征，以口腔面部色素沉着和胃肠道错构瘤性息肉病为特征。结果：38个先证者中有19个(50%)存在可检测到的点突变或小范围的缺失/插入，6个先证者(16%)存在包含一个或多个STK11外显子的基因组缺失。结论：这些发现表明外显子STK11缺失是PJS的常见原因，并为在患者中进行此类突变的初步筛查提供了有力的理论依据。
Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.Methods: Here we report the comprehensive mutational analysis of STK11 in 38 PJS probands applying conventional PCR based mutation detection methods and the recently introduced MLPA ( multiplex ligation dependent probe amplification) technique developed for the identification of exonic deletions/duplications.Results: Nineteen of 38 probands (50%) had detectable point mutations or small scale deletions/insertions and six probands (16%) had genomic deletions encompassing one or more STK11 exons.Conclusions: These findings demonstrate that exonic STK11 deletions are a common cause of PJS and provide a strong rationale for conducting a primary screen for such mutations in patients.