A novel mutation of the MEN1 gene in a Chinese kindred with multiple endocrine neoplasia type 1

作者：Xu, Lei; Li, Xu; Feng, Bo^*; Ni, Yafang; Wang, Hua; Wang, Lin

来源：Endocrine Journal, 2010, 57(9): 839-845.

DOI：10.1507/endocrj.K10E-116

• Multiple endocrine neoplasia type 1
• MEN1 gene
• Insertion mutation

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 MEN I 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 polymerease 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 MEN I, and it would be useful for the diagnosis of the disease.

• 出版日期2010-9
• 单位同济大学