中国实用儿科杂志2025，Vol.40Issue(11)：886-890,5.DOI:10.19538/j.ek2025110602
儿童Peutz-Jeghers综合征的基因诊断与遗传咨询
Genetic diagnosis and genetic counseling for pediatric Peutz-Jeghers syndrome
摘要
Abstract
Pediatric Peutz-Jeghers syndrome(PJS)is a rare autosomal dominant genetic disease caused mainly by STK11 gene mutations.PJS is characterized by multiple gastrointestinal hamartomatoid polyps and mucosal hyperpigmentation,and is associated with a significant risk of neoplasia.In recent years,with the development of genomics,the genetic diagnosis technology of PJS is also progressing.Traditional Sanger sequencing,multiplex ligation-dependent probe amplification(MLPA),and emerging next-generation sequencing(NGS)have become routine methods,which provide new opportunities for early diagnosis.At the same time,genetic counseling plays an increasingly important role in genetic diagnosis,covering family analysis,risk assessment and fertility guidance,which helps families better understand disease risks and management strategies.This article aims to review the genetic diagnosis methods and genetic counseling of PJS,and systematically analyze the molecular mechanism,clinical manifestations and genetic counseling strategies of PJS based on the latest research progress,so as to provide theoretical basis and practical guidance for clinical diagnosis,treatment and family management.关键词
Peutz-Jeghers综合征/STK11基因/儿童Key words
Peutz-Jeghers syndrome/STK11 gene/child分类
医药卫生引用本文复制引用
YANG Ying,CHE Feng-yu..儿童Peutz-Jeghers综合征的基因诊断与遗传咨询[J].中国实用儿科杂志,2025,40(11):886-890,5.基金项目
陕西省自然科学基础研究计划重点项目(2024JC-ZDXM-51) （2024JC-ZDXM-51）
