家族遗传性Peutz-Jeghers综合征STK11基因新发突变一例  

Identification of a novel STKll gene mutation in a family affected with hereditary Peutz-Jeghers syndrome

作　　者：许翠洋 马悦 曹非 赵赫 王永洁 肖泽文 唐洁冰[1] 燕飞虎[1] 孙鹏 张娜 陶冀[1] 

机构地区：[1]哈尔滨医科大学附属第三医院肿瘤内八科,150081 [2]北京诺禾致源科技股份有限公司,100083

出　　处：《中华医学遗传学杂志》2018年第1期89-91,共3页Chinese Journal of Medical Genetics

摘　　要：目的探讨1个Peutz—Jeghers综合征家系的遗传学病因。方法收集先证者及其7位3代以内亲属的外周血样或口腔拭子，提取基因组DNA，采用二代测序技术对先证者106个目标基因的外显子以及邻近的内含子区域进行测序，并通过二代测序验证STK11的疑似致病突变。结果在先证者的STK11基因内检测到一处既往未见报道的杂合突变NM-000455．4：c．419T〉C（RefSeq编号HumanGRCh37／hg19），该突变导致STK11基因编码蛋白的第140位氨基酸由亮氨酸转变为脯氨酸。先证者母亲的二代测序验证结果为阳性，其余亲属该位点则未发现突变。结论STK11基因的NM-000455．4：c．419T〉c突变可能是先证者发病的原因。Objective To explore the genetic basis for a family affected with Peutz-Jeghers syndrome （PJS）. Methods G-enomic DNA was extracted from peripheral blood and oral swab samples from the patient and her relatives. Next-generation sequencing （NGS） was used to analyze 106 target genes by capturing the exons and adjacent intronic regions. Suspected pathogenic mutation was verified by NGS. Results A missense STK11 mutation was detected in the proband, which was not reported previously. The mutation has caused substitution of Leucine by Proline. NGS has detected the same mutation in the mother but not among other relatives. Conclusion This hereditary case of PJS may be attributed to the missense mutation of the STKll gene.

关 键 词：家族遗传性Peutz Jeghers综合征 二代测序 STK11基因 

分 类 号：R596.1[医药卫生—内科学]