PMID- 21069576
OWN - NLM
STAT- MEDLINE
DCOM- 20110804
LR  - 20211020
IS  - 1559-0100 (Electronic)
IS  - 1355-008X (Linking)
VI  - 39
IP  - 2
DP  - 2011 Apr
TI  - A new mutation in the menin gene causes the multiple endocrine neoplasia type 1 
      syndrome with adrenocortical carcinoma.
PG  - 153-9
LID - 10.1007/s12020-010-9424-3 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor 
      syndrome that may be caused by mutations in the MEN1 gene on 11q13. Loss of 
      function of the tumor suppressor gene MEN1 leads to synchronous or metachronous 
      appearance of neuroendocrine tumors arising from neuroendocrine cells of the 
      parathyroid and pituitary glands, the duodenum and pancreatic islets, and other 
      endocrine organs such as the adrenal cortex. We here present a patient with MEN1 
      who developed hyperparathyroidism, multiple well differentiated functionally 
      inactive neuroendocrine tumors of the pancreas and an adrenal carcinoma. We 
      describe a new mutation at codon 443 in the coding region of exon 9 in the MEN1 
      gene, where a cytosine residue was exchanged for adenosine (TCC > TAC) and, 
      consequently, serine for tyrosine (p.Ser443Tyr; c.1328C > A). [corrected] Also, 
      we provide clinical data that may add to the genotype-phenotype discussion. We 
      conclude that the novel mutation in the MEN1 gene described herein was clinically 
      relevant.
FAU - Haase, M
AU  - Haase M
AD  - Department of Endocrinology, Diabetes and Rheumatology, University Hospital 
      Duesseldorf, Duesseldorf, Moorenstrasse 5, Germany.
FAU - Anlauf, M
AU  - Anlauf M
FAU - Schott, M
AU  - Schott M
FAU - Schinner, S
AU  - Schinner S
FAU - Kaminsky, E
AU  - Kaminsky E
FAU - Scherbaum, W A
AU  - Scherbaum WA
FAU - Willenberg, Holger S
AU  - Willenberg HS
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20101111
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
EIN - Endocrine. 2011 Jun;39(3):298
MH  - Adrenal Cortex Neoplasms/etiology/*genetics/pathology
MH  - Adrenocortical Carcinoma/etiology/*genetics/pathology
MH  - Family Health
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology/physiopathology
MH  - Neoplasm Invasiveness
MH  - *Point Mutation
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2010/11/12 06:00
MHDA- 2011/08/05 06:00
CRDT- 2010/11/12 06:00
PHST- 2010/05/11 00:00 [received]
PHST- 2010/10/25 00:00 [accepted]
PHST- 2010/11/12 06:00 [entrez]
PHST- 2010/11/12 06:00 [pubmed]
PHST- 2011/08/05 06:00 [medline]
AID - 10.1007/s12020-010-9424-3 [doi]
PST - ppublish
SO  - Endocrine. 2011 Apr;39(2):153-9. doi: 10.1007/s12020-010-9424-3. Epub 2010 Nov 
      11.