title: Multiple endocrine neoplasia type 1 presented with manic-depressive disorder: a case report with an identified MEN1 gene mutation.
abstract: We report a case of multiple endocrine neoplasia type 1 who had repeated hypoglycemic episodes and had previously been diagnosed with bipolar manic-depressive disorder. The patient had a positive family history of multiple endocrine neoplasia type 1 and had multiple pancreatic endocrine tumors, hyperparathyroidism and possibly a pituitary tumor. The pancreatic tumors were resected by subtotal pancreatectomy and examined by histochemical staining and gene analysis. The tumor cells were positive for immunoreactive insulin and glucagon. A microsatellite polymorphism analysis revealed loss of heterozygosity on 11q13 in the tumors. By polymerase chain reaction-based nucleotide sequencing, we identified a germline mutation 483del2 of the MEN1 gene in the normal pancreatic tissue of the patient. This mutation causes a shift of the reading frame of menin mRNA at codon 125. It seems that the wild type allele of the MEN1 gene had been lost in the tumor cells whereas the mutant allele remained intact. This is the first identified MEN1 gene mutation in Japanese families and is different from all MEN1 gene mutations reported previously.
authors.affiliation: Department of Internal Medicine, Self Defence Forces Central Hospital, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Aoki
authors.forename: T
authors.initials: T
authors.lastname: Tsukada
authors.forename: H
authors.initials: H
authors.lastname: Yasuda
authors.forename: S
authors.initials: S
authors.lastname: Kayashima
authors.forename: T
authors.initials: T
authors.lastname: Nagase
authors.forename: T
authors.initials: T
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Matsukuma
authors.forename: N
authors.initials: N
authors.lastname: Kuwabara
authors.forename: K
authors.initials: K
authors.lastname: Yoshimoto
authors.forename: K
authors.initials: K
authors.lastname: Yamaguchi
mesh_terms: D000328:Adult; D001714:Bipolar Disorder / Q000150:complications*; D003062:Codon / Q000235:genetics; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications; D007003:Hypoglycemia / Q000209:etiology; D008297:Male; D018895:Microsatellite Repeats; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation; D010180:Pancreatectomy; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D003062:Codon; D012333:RNA, Messenger