title: Menin mutations in patients with multiple endocrine neoplasia type 1.
abstract: Multiple endocrine neoplasia type 1 (MEN-1) is a familial cancer syndrome with parathyroid, pituitary and enteropancreatic tumors. The disease phenotype segregates with markers on chromosome 11q13. Very recently a new gene was cloned from this region and was found to carry mutations in 14 of 15 unrelated MEN-1 patients. The gene was termed menin and is predicted to code for a tumor suppressor protein of 610 amino acids, but its precise function is totally unknown. To confirm this finding we used PCR from genomic DNA and direct sequencing to analyze exons 2 through 10 of the menin gene in eight patients from four pedigrees with MEN-1 syndrome or an affected relative. We identified four different heterozygous mutations, three of them are novel: one nonsense mutation, one large deletion of 32 bp and two insertions, all of them located in exon 2. Our results confirm that patients with MEN-1 carry mutations in the menin gene.
authors.affiliation: Abteilung Klinische Endokrinologie, Medizinische Hochschule Hannover, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Mayr
authors.forename: S
authors.initials: S
authors.lastname: Apenberg
authors.forename: T
authors.initials: T
authors.lastname: Rothämel
authors.forename: A
authors.initials: A
authors.lastname: von zur Mühlen
authors.forename: G
authors.initials: G
authors.lastname: Brabant
mesh_terms: D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011518:Proto-Oncogene Proteins
chemical_list: C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins