Multiple endocrine neoplasia type 1 presented with manic-depressive disorder: a case report with an identified MEN1 gene mutation.

Content Provider	Semantic Scholar
Author	Aoki, Akira Tsukada, Toshihiko Yasuda, Hiroshi Kayashima, Shinsuke Nagase, Takahide Ito, Takashi Suzuki, Takanori Matsukuma, Shoichi Kuwabara, Natsuko Yoshimoto, Katsuhiko Yamaguchi, Kensei
Copyright Year	1997
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.
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PubMed reference number	9438006v1
Volume Number	27
Issue Number	6
Journal	Japanese journal of clinical oncology
Language	English
Access Restriction	Open
Subject Keyword	11q13 Base Sequence Codon Genus Depressive disorder Endocrine System Diseases Family History Domain GCG gene Germ-Line Mutation Heterozygote Hyperparathyroidism Hypoglycaemic episode Hypoglycemic Agents Loss of Heterozygosity MEN1 gene Manic Multiple Endocrine Neoplasia Type 1 Nucleotides Pancreatectomy Pancreatic Neoplasm Patients Pituitary Neoplasms Polymerase Chain Reaction Reading Frames (Nucleotide Sequence) Staining method Subtotal thyroidectomy Wild Type
Content Type	Text
Resource Type	Article