Department of Endocrinology, Affiliated East Hospital, Tongji University, Shanghai, China.
Endocr J. 2010;57(9):839-45. doi: 10.1507/endocrj.k10e-116. Epub 2010 Aug 11.
Germline mutations in the MEN1 gene are well documented as the genetic cause of multiple endocrine neoplasia type 1 (MEN1). In this study, we performed genetic analysis by direct MEN1 gene mutation analysis on a Chinese MEN1 family. The two patients in this family were diagnosed as MEN1 by the typical clinical findings of parathyroidoma, insulinoma and pituitary adenoma. The coding sequences, including 9 coding exons and exon/intron boundaries of the MEN1 gene were amplified by polymerase chain reaction (PCR) and subjected to direct sequencing. Sequence analysis showed a same novel insertion mutation in exon 3 (c.433_434ins CTTC) in both patients, resulting in an open reading frames shift and produced a premature termination codon. None of the other family members had this insert mutation. In conclusion, we add a new mutation of MEN1 gene in Chinese patients with MEN1, and it would be useful for the diagnosis of the disease.
MEN1 基因的种系突变被认为是多发性内分泌腺瘤 1 型（MEN1）的遗传原因。在这项研究中，我们通过直接 MEN1 基因突变分析对一个中国 MEN1 家族进行了遗传分析。该家族中的两名患者通过甲状旁腺瘤、胰岛素瘤和垂体腺瘤的典型临床发现被诊断为 MEN1。MEN1 基因的编码序列，包括 9 个编码外显子和外显子/内含子边界，通过聚合酶链反应（PCR）扩增，并进行直接测序。序列分析显示，两名患者的外显子 3（c.433_434ins CTTC）中存在相同的新插入突变，导致阅读框移位并产生提前终止密码子。其他家族成员均无此插入突变。总之，我们在中国 MEN1 患者中发现了一个新的 MEN1 基因突变，这对于该疾病的诊断很有帮助。
