title: Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.
abstract: OBJECTIVE
  Multiple endocrine neoplasia type 1 (MEN1) is characterized by a triad of neoplasia affecting the parathyroid glands, enteropancreatic endocrine tissue and the anterior pituitary gland.
  
  
  METHODS
  In order to define the prevalence of MEN1 germ-line mutations in Southern Chinese patients with MEN1 syndrome, we performed direct sequencing of the entire open reading frame of the MEN1 gene for 12 index patients and their first-degree relatives.
  
  
  RESULTS
  Six patients had familial MEN1 syndrome and six had apparently sporadic disease. Nine different germ-line mutations at the MEN1 gene were identified, including three novel mutations [248-249delTT in exon 2, K559X(AAG --> TAG) in exon 10 and IVS 2nt + 2(G --> T) in intron 2]. All patients with familial MEN1 syndrome were heterozygous carriers of a germ-line mutation and MEN1-related disorders were only evident in their first-degree relatives who also carried the mutation. All patients with an enteropancreatic lesion were mutation carriers and the absence of mutation in three apparently sporadic MEN1 patients with only hyperparathyroidism and pituitary microadenoma might represent the presence of MEN1 phenocopy.
  
  
  CONCLUSIONS
  The finding of MEN1 germ-line mutation in all patients with familial MEN1 syndrome suggests that genetic screening should be useful in our population to identify affected individuals within a kindred and allow early detection of MEN1-related tumours.
authors.affiliation: Department of Medicine, University of Hong Kong, and Department of Medicine, Queen Elizabeth Hospital, Hong Kong.
authors.forename: A W K
authors.initials: AW
authors.lastname: Tso
authors.forename: R
authors.initials: R
authors.lastname: Rong
authors.forename: C Y
authors.initials: CY
authors.lastname: Lo
authors.forename: K C B
authors.initials: KC
authors.lastname: Tan
authors.forename: S C
authors.initials: SC
authors.lastname: Tiu
authors.forename: N M S
authors.initials: NM
authors.lastname: Wat
authors.forename: J Y
authors.initials: JY
authors.lastname: Xu
authors.forename: A
authors.initials: A
authors.lastname: Villablanca
authors.forename: C
authors.initials: C
authors.lastname: Larsson
authors.forename: B T
authors.initials: BT
authors.lastname: Teh
authors.forename: K S L
authors.initials: KS
authors.lastname: Lam
mesh_terms: D000328:Adult; D000368:Aged; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000379:methods; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D018389:Codon, Nonsense