title: A Novel Missense Mutation of the MEN1 Gene in a Patient with Multiple Endocrine Neoplasia Type 1 with Glucagonoma and Obesity.
abstract: A 35-year-old obese diabetic man presented with recurrent primary hyperparathyroidism during a three-year outpatient follow-up. He was clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) due to the presence of a pituitary adenoma and multiple glucagonomas. The glucagonomas may have affected his glycemic control. However, he did not demonstrate weight loss, suggesting that the patient's obesity could have obscured the early diagnosis of a glucagonoma. Genetic testing revealed a novel missense mutation at codon 561 in exon 10, resulting in an amino acid substitution from methionine to arginine (M561R) in the MEN1 gene. This mutation appeared to be responsible for the MEN1 pathogenicity.
authors.affiliation: Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Murakami
authors.forename: Takeshi
authors.initials: T
authors.lastname: Usui
authors.forename: Akio
authors.initials: A
authors.lastname: Nakajima
authors.forename: Yuki
authors.initials: Y
authors.lastname: Mochida
authors.forename: Sumio
authors.initials: S
authors.lastname: Saito
authors.forename: Takuo
authors.initials: T
authors.lastname: Nambu
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kato
authors.forename: Yuki
authors.initials: Y
authors.lastname: Matsuda
authors.forename: Shin
authors.initials: S
authors.lastname: Yonemitsu
authors.forename: Seiji
authors.initials: S
authors.lastname: Muro
authors.forename: Shogo
authors.initials: S
authors.lastname: Oki
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2; D005820:Genetic Testing; D005935:Glucagonoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D020125:Mutation, Missense / Q000235:genetics*; D009765:Obesity / Q000150:complications; D010190:Pancreatic Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D011518:Proto-Oncogene Proteins
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins