Different Phenotypes of Multiple Endocrine Neoplasia Type 1 (MEN 1) in Monozygotic Twins Found in a Japanese MEN 1 Family with MEN 1 Gene Mutation

Endocrine Journal

IWAO IJIRI²  SETSUKO AMENO²  JIRO TAKAHARA¹  MOHAMMAD MR BHUIYAN¹  HIROYOSHI NAMIHIRA¹  AKIRA MIYAUCHI³  KIYOSHI AMEND²  MAKOTO SATO¹  KOJI MURAO¹  HIDEMI OHYE¹  SHUJI MATSUBARA¹ 

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

关键词: MEN1;    Monozygotic;    Twin;    Japanese;    Mutation;   

DOI  :  10.1507/endocrj.47.37

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(19)Cited-By(5)We report monozygotic twins who showed different MEN1 phenotypes. The proband (28 y.o., female) had both primary hyperparathyroidism (PHP) and insulinoma, and genetic analysis revealed a point mutation (569del1, exon 3) of the MEN1 gene. This mutation causes a frameshift and produces a stop codon at codon 184. Restriction digestion (HinfI) analysis confirmed the same mutation of the MEN1 gene in six of the affected members including her two sisters, the monozygotic twins, and no such mutation in two unaffected members. In two generations of this family, eight of eleven family members had PHP and four of them were found to have other MEN1-related lesions. Both of the monozygotic twins had PHP. Interestingly, one had pancreatic tumor but the other had no evidence of it. Pituitary MRI showed no pituitary lesion in either of them. This is the first Japanese case of monozygotic twins with different MEN1 phenotypes.

【 授权许可】

Unknown