title: Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.
abstract: The recent isolation of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1) has enabled direct genetic diagnosis for people with endocrine tumors and family members of affected patients. Although MEN 1 is rarely recognized in the Japanese population compared to its prevalence in Caucasians, we have previously reported a high prevalence of this disease in a limited area (Nagano Prefecture; population, 2.15 million). In this communication, we report mutations of the MEN1 gene in kindreds living in Nagano Prefecture. The absence of a common mutation among these kindreds indicates that the high prevalence of MEN 1 in this area is not due to a regional accumulation of patients descended from a common ancestor. This result implies that the prevalence of MEN 1 in other areas of Japan could also be higher than had been thought.
authors.affiliation: Department of Geriatrics, Endocrinology and Metabolism, Shinshu University School of Medicine, Matsumoto, Japan. bakabon@gipac.shinshu-u.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Sakurai
authors.forename: S
authors.initials: S
authors.lastname: Shirahama
authors.forename: M
authors.initials: M
authors.lastname: Fujimori
authors.forename: M
authors.initials: M
authors.lastname: Katai
authors.forename: Y
authors.initials: Y
authors.lastname: Itakura
authors.forename: S
authors.initials: S
authors.lastname: Kobayashi
authors.forename: J
authors.initials: J
authors.lastname: Amano
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: K
authors.initials: K
authors.lastname: Hashizume
mesh_terms: D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D007564:Japan; D018761:Multiple Endocrine Neoplasia Type 1 / Q000453:epidemiology / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D015995:Prevalence; D011518:Proto-Oncogene Proteins; D017384:Sequence Deletion
chemical_list: C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins