MRAS基因突变相关Noonan综合征1例报道并文献复习  

MRAS gene mutation associated Noonan syndrome:a case report and literature review

作　　者：郝鹏锴 刘梦南 朱颖杰 任窈窕 郑春玲 滕晓宇[1] 韩沫 Hao Pengkai;Liu Mengnan;Zhu Yingjie;Ren Yaotiao;Zheng Chunling;Teng Xiaoyu;Han Mo(Jilin Maternal and Child Health Hospital(Jilin Obstetric Quality Control Center),Changchun 130000,China;Jilin Provincial Institute of Population Life Science and Technology,Changchun 130000,China;Altay Maternal and Child Health and Family Planning Service Center(Altay Maternal and Child Health Hospital),Altay 836500,China)

机构地区：[1]吉林省妇幼保健院(吉林省产科质量控制中心),长春130000 [2]吉林省人口生命科学技术研究院,长春130000 [3]阿勒泰地区妇幼保健计划生育服务中心(阿勒泰地区妇幼保健院),阿勒泰836500

出　　处：《国际医药卫生导报》2024年第22期3743-3746,共4页International Medicine and Health Guidance News

摘　　要：目的通过对1例Noonan综合征儿童进行分子遗传学诊断,探讨其基因突变的发病机制及产前筛查和基因诊断。方法对阿勒泰地区妇幼保健院1例Noonan综合征儿童应用二代高通量测序,采用Sanger测序对患儿及其父母进行验证。结果患儿基因测序结果提示MRAS基因存在杂合突变,该杂合突变为68号核苷酸的鸟嘌呤G突变为胸腺嘧啶T(c.68G>T),从而导致第23号氨基酸由甘氨酸突变为缬氨酸(p.Gly23Val)。结论根据美国医学遗传学与基因组学学会(ACMG)变异分类指南,该变异为致病性变异,高通量测序有助于该类复杂遗传病的诊断。Objective Through molecular genetic diagnosis of a child with Noonan syndrome,this study explored the pathogenesis of gene mutations,prenatal screening,and genetic diagnosis.Methods Second generation high-throughput sequencing was applied to the child with Noonan syndrome in Altay Maternal and Child Health Hospital,and Sanger sequencing was used to validate the child and their parents.Results The sequencing results of the child's genes suggested the presence of a heterozygous mutation in the MRAS gene,which was a guanine G mutation at nucleotide 68 to thymine T(c.68G>T),resulting in a mutation of amino acid 23 from Glycine to Valine(p.Gly23Val).Conclusion According to the American College of Medical Genetics and Genomics(ACMG)variant classification guidelines,this variant is a pathogenic variant,and high-throughput sequencing is helpful for the diagnosis of this complex genetic disease.

关 键 词：NOONAN综合征 突变 MRAS基因 

分 类 号：R725.9[医药卫生—儿科]