title: A novel MEN1 frameshift germline mutation in two Italian monozygotic twins.
abstract: BACKGROUND
  This report describes clinical, biochemical and molecular findings regarding two Italian monozygotic twins carrying a novel multiple endocrine neoplasia type 1 (MEN1) mutation inherited from their mother.
  
  
  METHODS
  Clinical, biochemical and genetic evaluations of the above-mentioned family members were performed.
  
  
  RESULTS
  All three members were heterozygous for a deletion involving the first nucleotide at codon 98 in exon 2 of the MEN1 gene, which results in early termination of the protein. The clinical phenotypes were as follows: one out of the two twins suffered from insulinoma and hyperparathyroidism, while the second one was asymptomatic. Furthermore, the mother suffered from hyperparathyroidism, as well as from hypergastrinemia for several years before the daughter was diagnosed of MEN-1.
  
  
  CONCLUSIONS
  We describe a family with a new heterozygous mutation (g.292delC) in the MEN1 gene not described previously. The mutation leads to a truncated protein without activity, explaining the clinical picture of this family.
authors.affiliation: Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Aurora
authors.initials: A
authors.lastname: Rossodivita
authors.forename: Cinzia
authors.initials: C
authors.lastname: Carrozza
authors.forename: Marco
authors.initials: M
authors.lastname: Raffaelli
authors.forename: Celestino Pio
authors.initials: CP
authors.lastname: Lombardi
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Dario
authors.initials: D
authors.lastname: Pitocco
authors.forename: Achille
authors.initials: A
authors.lastname: Stabile
authors.forename: Rocco
authors.initials: R
authors.lastname: Bellantone
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000293:Adolescent; D004200:Diseases in Twins / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D007340:Insulinoma / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics* / Q000378:metabolism; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D014430:Twins, Monozygotic