Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018
[Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome].
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Xu Cuiyang, Ma Yue, Cao Fei, Zhao He, Wang Yongjie, Xiao Zewen, Tang Jiebing, Yan Feihu, Sun Peng, Zhang Na, Tao Ji
Аннотация
OBJECTIVE To explore the genetic basis for a family affected with Peutz-Jeghers syndrome (PJS). METHODS Genomic 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 STK11 gene.