PMID- 21454242
OWN - NLM
STAT- MEDLINE
DCOM- 20111108
LR  - 20210204
IS  - 1934-2403 (Electronic)
IS  - 1530-891X (Linking)
VI  - 17
IP  - 3
DP  - 2011 May-Jun
TI  - A novel missense mutation in the MEN1 gene in a patient with multiple endocrine 
      neoplasia type 1.
PG  - e63-7
LID - 10.4158/EP10291.CR [doi]
AB  - 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.
FAU - Hou, Runhua
AU  - Hou R
AD  - University of Rochester Medical Center, Rochester, NY, USA. 
      runhua_hou@urmc.rochester.edu
FAU - Manwaring, Linda P
AU  - Manwaring LP
FAU - Moley, Jeffrey F
AU  - Moley JF
FAU - Whelan, Alison
AU  - Whelan A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Endocr Pract
JT  - Endocrine practice : official journal of the American College of Endocrinology 
      and the American Association of Clinical Endocrinologists
JID - 9607439
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Germ-Line Mutation
MH  - Humans
MH  - Hyperparathyroidism, Primary/genetics
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation, Missense
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2011/04/02 06:00
MHDA- 2011/11/09 06:00
CRDT- 2011/04/02 06:00
PHST- 2011/04/02 06:00 [entrez]
PHST- 2011/04/02 06:00 [pubmed]
PHST- 2011/11/09 06:00 [medline]
AID - S1530-891X(20)40431-8 [pii]
AID - 10.4158/EP10291.CR [doi]
PST - ppublish
SO  - Endocr Pract. 2011 May-Jun;17(3):e63-7. doi: 10.4158/EP10291.CR.