title: Different phenotypes of multiple endocrine neoplasia type 1 (MEN1) in monozygotic twins found in a Japanese MEN1 family with MEN1 gene mutation.
abstract: 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.
authors.affiliation: First Department of Internal Medicine, Kagawa Medical University, , Kita-gun, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Namihira
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: A
authors.initials: A
authors.lastname: Miyauchi
authors.forename: H
authors.initials: H
authors.lastname: Ohye
authors.forename: S
authors.initials: S
authors.lastname: Matsubara
authors.forename: M M
authors.initials: MM
authors.lastname: Bhuiyan
authors.forename: K
authors.initials: K
authors.lastname: Murao
authors.forename: S
authors.initials: S
authors.lastname: Ameno
authors.forename: K
authors.initials: K
authors.lastname: Ameno
authors.forename: I
authors.initials: I
authors.lastname: Ijiri
authors.forename: J
authors.initials: J
authors.lastname: Takahara
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014430:Twins, Monozygotic