多发性内分泌腺瘤病1型合并马凡综合征家系的临床研究  

Clinical Study of Family with Multiple Endocrine Neoplasia Type 1 Combined Marfan Syndrome

作　　者：陆淋丽 梁景童 余雪婷 赵静 鞠海兵 LU Linli;LIANG Jingtong;YU Xueting;ZHAO Jing;JU Haibing(Department of Functional Testing,Fuwai Yunnan Cardiovascular Hospital,Kunming Yunnan 650032,China)

机构地区：[1]云南省阜外心血管病医院功能检测科,云南昆明650032 [2]联勤保障部队920医院内分泌科

出　　处：《联勤军事医学》2023年第12期1003-1007,1035,共6页Military Medicine of Joint Logistics

基　　金：云南省兴滇英才支持计划“医疗卫生人才”项目(XDYC-MY-2023-0022)。

摘　　要：目的通过分析1例多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)合并马凡综合征(Marfan syndrome,MFS)患者的临床特征,进一步对该家系进行基因检测明确其致病基因,为临床诊断及遗传咨询提供理论依据。方法收集1例诊断为MEN1合并MFS先证者的病例资料,并对家系3名成员行全外显子测序(whole-exome sequencing,WES),对致病基因行Sanger验证。结果高通量测序结果提示先证者及其儿子MEN1基因上发现新的致病性杂合变异c.125dup,先证者及其儿子原纤维蛋白1(fibrillin-1,FBN1)基因上发现新的致病性杂合变异c.4621C>T。结论本研究报告了同时患有包括MEN1和MFS的患者及其家系,扩展了MEN1和MFS致病基因突变谱,为该家系的后续遗传咨询及治疗选择提供了理论依据。Objective To analyze the clinical characteristics of a patient with multiple endocrine neoplasia type 1(MEN1) and Marfan syndrome(MFS),and to further detect the pathogenic gene in the family,and to provide theoretical basis for clinical diagnosis and genetic counseling.Methods Clinical data of a proband diagnosed with MEN1 combined MFS were collected,and whole-exome sequencing(WES) was performed for 3 family members,Sanger sequencing was used to verify the pathogenic genes.Results High-throughput sequencing revealed a novel heterozygous variant of the MEN1 gene:c.125dup in the proband,and his son,a novel heterozygous variant c.4621C>T was identified in the fibrillin-1(FBN1) gene of the proband,and his son.Conclusion This study reports patients with both MEN1 and MFS and their families,which expands the pathogenic gene mutation spectrum of MEN1 and MFS,and provides a theoretical basis for the subsequent genetic counseling and treatment options of the family.

关 键 词：多发性内分泌腺瘤病1型 马凡综合征 全外显子测序 原纤维蛋白1基因 

分 类 号：R736[医药卫生—肿瘤]