RAS信号通路相关综合征的产前诊断  

Prenatal diagnosis of Rasopathies in Ras/MAPK signaling pathway

作　　者：张建军[1] 曾艳[1] Zhang Jianjun;Zeng Yan(Center of Prenatal Diagnosis,Shaoxing Women and Children’s Health Care Hospital,Shaoxing,Zhejiang 312000,China)

机构地区：[1]绍兴市妇幼保健院产前诊断中心,浙江312000

出　　处：《中华医学遗传学杂志》2020年第11期1291-1295,共5页Chinese Journal of Medical Genetics

基　　金：绍兴市公益性技术应用研究计划项目(2018C30039)。

摘　　要：RAS信号通路相关综合征(RASopathies)是由RAS/MAPK通路的基因变异引起的一组疾病,患者的临床表型存在重叠,诊断十分困难。由于几乎所有的RASopathies均呈常染色体显性遗传,许多家庭会反复生育患儿。随着测序技术的发展,这类综合征的基因型与表型的相关性越来越明确。分子遗传学检测可为受累家系提供产前诊断,减少患儿的出生。但对于新发变异,产前诊断RASopathies仍较困难。近期研究发现对于不同的RAS相关疾病,可以从超声表现中找到一些基因检测的线索,本文就RASopathies及其产前诊断的进展做一综述。RASopathies are a group of disorders caused by germline variants of genes involved in RAS/MAPK pathway with overlapping features which may complicate their diagnosis.Since almost all RASopathies are autosomal dominant inherited disorders,the affected families may give birth to multiple children with the disease.Owning to the advance in sequencing technology,the genotype-phenotype correlation of RASopathies has become clearer in recent years,and genetic testing is now available in many places,which make prenatal diagnosis for couples with increased risk possible.For de novo variants of RASopathies,prenatal diagnosis is still difficult as the findings in routine ultrasonography are not specific enough.Nevertheless,certain findings may still be used as clues for prenatal diagnosis.This article overviews the common disorders of RASopathies,with an emphasis on the features that can be used as clues for the prenatal diagnosis of RASopathies.

关 键 词：RAS信号通路相关综合征 超声检查 RAS/MAPK信号通路 NOONAN综合征 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]