Germline Mutation of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in a Family with Primary Hyperparathyroidism

Endocrine Journal

JIRO TAKAHARA¹  AKIRA MIYAUCHI¹  HITOMI IMACHI¹  MAKOTO SATO¹  KOJI MURAO¹  HIDEMI OHYE¹  SHUJI MATSUBARA¹ 

[1] First Department of Internal Medicine and Second Department of Surgery, Kagawa Medical University

关键词: Familial primary hyperparathyroidism;    MEN1 gene;    Mutation;   

DOI  :  10.1507/endocrj.45.719

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(19)Cited-By(7)Familial primary hyperparathyroidism (FHP) is a rare hereditary disorder characterized by isolated parathyroid tumors without any other lesions related to multiple endocrine neoplasia (MEN). Primary hyperparathyroidism is usually expressed at an early age and is highly penetrated in MEN type 1(MEN1), suggesting that some FHP may be a variant type or early stage of MEN1. The MEN1 gene has recently been cloned and its germline mutations have been considered to play an important role in the tumorigenesis of MEN1. We studied a Japanese family with primary hyperparathyroidism which included 4 patients. To investigate the possible relationship between primary hyperparathyroidism in this family and the MEN1 gene, we analyzed a proband for a germline mutation of the MEN1 gene in this study. We identified a novel heterozygous mutation (1350del3) at codon 414 in exon 9. Restriction digestion analysis revealed the same mutation pattern in his brother with hyperparathyroidism. These findings suggest that our patients may belong to a variant type of MEN1.

【 授权许可】

Unknown