title: A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a Japanese MEN1 patient and her daughter.
abstract: 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.
authors.affiliation: First Department of Internal Medicine, Kagawa Medical University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ohye
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: S
authors.initials: S
authors.lastname: Matsubara
authors.forename: A
authors.initials: A
authors.lastname: Miyauchi
authors.forename: K
authors.initials: K
authors.lastname: Kishi-Imai
authors.forename: K
authors.initials: K
authors.lastname: Murao
authors.forename: J
authors.initials: J
authors.lastname: Takahara
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D015408:Gastrinoma / Q000235:genetics; D017353:Gene Deletion; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics; D015175:Prolactinoma / Q000235:genetics
chemical_list: D004247:DNA