新的MEN1基因剪切突变导致多发性内分泌腺瘤病Ⅰ型的家系研究

A novel splice site mutation of MEN1 gene detected in a pedigree of multiple endocrine neoplasia type 1

目的对1例多发性内分泌腺瘤病Ⅰ型(MEN1)患者进行基因诊断和家系成员的随访。方法收集MEN1患者的临床及家系资料,抽取先证者及5位家系成员外周血提取DNA,对MEN1基因的10个外显子进行PCR扩增,用全自动测序仪进行测序分析。结果(1)经MEN1基因突变检测证实,先证者存在内含子5剪切位点的突变(IVS7+2T→G)。(2)先证者无临床表现的儿子也携带此突变,在基因诊断7个月后出现了明显的临床表现,术后病理证实为胰岛β细胞瘤和左肾上腺腺瘤。结论临床医师应常规对所有MEN1患者及其家系高危成员尽早进行基因突变分析和筛查,并严格随访,从而改善疾病的预后。

Objective To investigate mutations of MEN1 gene in a pedigree of multiple endocrine neoptasia type 1 （MEN 1）. Methods A patient with MEN 1 and his family members were enrolled in the study. Peripheral blood samples were collected and to- tal genomic DNA was prepared for polymerase chain reaction （PCR）. PCR products of 10 exons of MEN1 gene were purified and gene sequence analysis was performed. Results A splice site mutation of intron 7 （IVS7＋2 T→G） were detected in the proband and his son, in whom clinical manifestations presented 7 months after genetic diagnosis, and insulinoma and left adrenal adenoma were then confirmed pathologically. Conclusion MEN1 patients may carry MEN1 mutations,which should be screened in their family members for early diagnosis and treatment.