Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
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DOI：
10.1186/s12881-016-0339-6
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发表时间：
2016-11-08
影响因子：
--
通讯作者：
Wu L
中科院分区：
文献类型：
--
作者：
Tan H;Mei L;Huang Y;Yang P;Li H;Peng Y;Chen C;Wei X;Pan Q;Liang D;Wu L
Peutz-Jeghers综合征（PJS）是一种罕见的常染色体显性遗传性疾病，其特征是胃肠道（GI）错构瘤性息肉，粘膜皮肤色素沉着过度和癌症风险增加。丝氨酸-苏氨酸激酶11（SKT 11）基因突变是PJS的主要原因。血液样本收集自六个PJS家庭，包括八名患者。应用桑格测序和多重连接依赖探针扩增（MLPA）技术对这6个PJS家系进行STK 11基因突变筛查，发现3个新突变（c.721G > C、c.645_726del82和del（exon 2 -5））和3个复发突变（c.752G > A、c.545 T > C和del（exon 1））。基因型-表型相关性表明截短突变倾向于导致严重的并发症。这些发现拓宽了STK 11基因的突变谱，将有助于临床医生和遗传咨询师为PJS患者提供更好的临床监测，特别是对携带截短突变的患者。本文的在线版本（doi：10.1186/s12881-016-0339-6）包含补充材料，可供授权用户使用。
Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. The online version of this article (doi:10.1186/s12881-016-0339-6) contains supplementary material, which is available to authorized users.
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