外显子STK11缺失并非黑斑息肉综合征的罕见病因。
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.
作者信息
Hearle N C M, Rudd M F, Lim W, Murday V, Lim A G, Phillips R K, Lee P W, O'donohue J, Morrison P J, Norman A, Hodgson S V, Lucassen A, Houlston R S
出版信息
J Med Genet. 2006 Apr;43(4):e15. doi: 10.1136/jmg.2005.036830.
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.
背景
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传性癌症易感综合征，其特征为口腔面部色素沉着和胃肠道错构瘤性息肉病。在30%至80%的PJS患者中可鉴定出STK11基因的致病种系突变。
方法
在此，我们报告了对38例PJS先证者进行的STK11基因全面突变分析，采用基于常规PCR的突变检测方法以及最近引入的用于鉴定外显子缺失/重复的MLPA（多重连接依赖探针扩增）技术。
结果
38例先证者中有19例（50%）检测到点突变或小片段缺失/插入，6例先证者（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的常见病因，并为对患者进行此类突变的初步筛查提供了有力依据。
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