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

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.