Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome.

VernacularTitle:家族遗传性Peutz-Jeghers综合征STK11基因新发突变一例
Author: Cuiyang XU ¹ ; Yue MA ; Fei CAO ; He ZHAO ; Yongjie WANG ; Zewen XIAO ; Jiebing TANG ; Feihu YAN ; Peng SUN ; Na ZHANG ; Ji TAO
Author Information

1. Unit 8, Department of Ontology Medicine, the Third Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150081, China. Email: taoji66@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2018;35(1):89-91
CountryChina
Language:Chinese
Abstract: 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.