一例复合杂合性突变所致多发性内分泌腺瘤病1型的临床表现与基因型  

Clinical manifestations and genotype of one case of multiple endocrine neoplasia type 1

作　　者：李金慧[1] 孟馨[1] 姜雅秋[1] 王晓黎[1] 关海霞[1] 张锦[1] 单忠艳[1] 

机构地区：[1]中国医科大学附属第一医院内分泌科,辽宁沈阳110001

出　　处：《中国微生态学杂志》2016年第8期938-941,共4页Chinese Journal of Microecology

基　　金：卫生部国家临床重点专科资助项目;国家自然基金青年基金(81200653)

摘　　要：目的分析1例多发性内分泌腺瘤病1型(MEN1)患者的临床特征和基因型,以期提高临床医生对本病的认识与诊断的准确性。方法分析患者病史、临床表现、实验室检查及影像学资料,并对MEN1基因进行扩增与测序。结果发现1例临床症状符合典型的多发性内分泌腺瘤病1型患者,基因测序鉴定本例患者的MEN1基因第9号外显子内存在同义突变,为c.1818位T→C(rs540012),第10号外显子存在两处复合杂合性突变,分别是c.2098位C→T(R527X,rs104894261),造成第527位氨基酸精氨酸(CGA)突变为终止密码子TGA;和c.2140位G→A(A541T,rs2959656),造成第541位丙氨酸(GCA)突变为苏氨酸(ACA)。结论本例患者表现了典型的多发性内分泌腺瘤病1型的临床症状与体征,遗传学分析进一步验证了患者携带MEN1基因的致病突变,提示根据临床表现结合基因学确诊本病的可靠性。Objective To analyze the clinical manifestations,laboratory findings and genetic characteristics of one case of multiple endocrine neoplasia type 1（MEN1）.Methods The medical history,clinical manifestations,laboratory findings and imaging data of a patient with MEN1 were analyzed,and the promoter and coding areas of gene were directly sequenced.Results The patient was diagnosed as MEN1,and the gene sequencing showed a nonsense mutation at c.1818 within exon 9.Two transitions were detected in exon 10,including c.2098 C → T（R527X,rs104894261）and c.2140 G → A（A541T,rs2959656）.Conclusion The patient can be diagnosed as MEN1,and genetic analysis verified that the patient carried the pathogenic mutation of MEN1 gene.

关 键 词：多发性内分泌腺瘤病1型 MEN1基因 基因突变 

分 类 号：R736[医药卫生—肿瘤]