Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

Key Clinical Message The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development...

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Bibliographic Details
Main Authors: Yudian Qiu, Tao Xuan, Mujun Yin, Zhidong Gao, Peng Guo, Xi Chen, Yingjiang Ye, Zhanlong Shen
Format: Article
Language:English
Published: Wiley 2019-04-01
Series:Clinical Case Reports
Subjects:
germline variants
high‐throughput sequencing
Peutz‐Jeghers syndrome
somatic gene variants
STK11
Online Access:https://doi.org/10.1002/ccr3.2073
Description
Summary:Key Clinical Message The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development of this familial PJS polyps.
ISSN:2050-0904

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