A Novel Germline Mutation of Multiple Endocrine Neoplasia Type 1 (MEN 1) Gene in a Japanese MEN 1 Patient and Her Daughter

Endocrine Journal

KEIKO KISHI-IMAI¹  JIRO TAKAHARA²  AKIRA MIYAUCHI³  MAKOTO SATO²  KOJI MURAO²  HIDEMI OHYE²  SHUJI MATSUBARA² 

[1] Faculty of Nursing, Kagawa Medical University;First Department of Internal Medicine, Kagawa Medical University;Kuma Hospital

关键词: Hyperparathyroidism;    Prolactinoma;    MEN1 gene;    Mutation;   

DOI  :  10.1507/endocrj.46.325

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(17)Cited-By(3)Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder characterized by tumors of the parathyroid, anterior pituitary and gastro-entero-pancreatic endocrine tissues. 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 analyzed a Japanese MEN1 patient and her daughter for germline mutations of the MEN1 gene. The proband (60 y.o.) had primary hyperparathyroidism (PHP) and gastrinoma, and her daughter (30 y.o.) had prolactinoma. Clinical examinations revealed no evidence of PHP in the daughter. We identified a novel heterozygous germline mutation (712 A del) at codon 201 in exon 3 of the MEN1 gene in the proband. Restriction digestion analysis revealed the same mutation pattern in her daughter. These findings suggest that this family has familial MEN1 including a rare case of MEN1 with a single lesion of the pituitary. Genetic examinations are useful as diagnostic tools for any rare or variant case of familial MEN1.

【 授权许可】

Unknown