title: A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.
abstract: OBJECTIVE
  To describe a novel germline missense mutation in exon 2 of the MEN1 gene identified in a man with multiple endocrine neoplasia type 1 (MEN 1).
  
  
  METHODS
  We describe the patient's clinical, laboratory, and genetic data, and we review the relevant literature.
  
  
  RESULTS
  A 41-year-old man with a history of primary hyperparathyroidism and left lower parathyroidectomy presented with nausea, vomiting, and hematemesis. Laboratory data revealed an elevated gastrin level. Computed tomography of the abdomen demonstrated a 3.5-cm mass in the head of pancreas. A functional study with a somatostatin receptor scan showed increased uptake in the region of the pancreatic mass. The patient's symptoms promptly improved after the Whipple procedure, although he was also noted to have a markedly elevated calcium concentration along with inappropriately elevated parathyroid hormone levels. Sestamibi scan identified a hyperfunctioning right upper parathyroid gland. His calcium level normalized after parathyroidectomy, and results from pituitary hormone studies were all normal. Genetic testing of the MEN1 gene identified a novel mutation: Arg52Gly. The Arg52Gly mutation replaces the normal arginine residue (CGC) with a glycine residue (GGC) at position 52 of the resultant menin protein. This mutation was present in family members from 3 generations.
  
  
  CONCLUSIONS
  We report a novel disease-causing germline missense mutation in exon 2 of the MEN1 gene in a patient with MEN 1. Nonconservative replacement of arginine, a small, neutral amino acid, with glycine, a bulky positively charged amino acid, could potentially have a deleterious effect on the menin protein.
authors: University of Rochester Medical Center, Rochester, NY, USA. runhua_hou@urmc.rochester.edu
authors: Runhua
authors: R
authors: Hou
authors: Linda P
authors: LP
authors: Manwaring
authors: Jeffrey F
authors: JF
authors: Moley
authors: Alison
authors: A
authors: Whelan
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D018095:Germ-Line Mutation; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000235:genetics; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D020125:Mutation, Missense; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins