PMID- 23188049
OWN - NLM
STAT- MEDLINE
DCOM- 20131021
LR  - 20211021
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 21
IP  - 6
DP  - 2013 Jun
TI  - A new double substitution mutation in the MEN1 gene: a limited penetrance and a 
      specific phenotype.
PG  - 695-7
LID - 10.1038/ejhg.2012.241 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant cancer 
      syndrome that is caused by a germline mutation in the MEN1 gene encoding a 
      tumour-suppressor protein, menin. MEN1 causes a combination of endocrine tumours 
      such as parathyroid adenomas, pituitary adenomas, glucagonomas, gastrinomas, 
      insulinomas, adrenocortical adenomas and non-endocrine tumours. We here present a 
      large MEN1 family where the carriers developed mild hyperparathyroidism, multiple 
      well-differentiated functionally active neuroendocrine tumours of the pancreas 
      and no pituitary tumour. The causal mutation is a new double substitution in the 
      coding region of exon 2 in the MEN1 gene c.[428T>A; 429C>T], p.Leu143His. This 
      new mutation in the MEN1 gene is clinically relevant leading to a limited 
      penetrance and specific phenotype.
FAU - Ullmann, Urielle
AU  - Ullmann U
AD  - Center for Medical Genetics UZ Brussel Hospital, Vrije Universiteit Brussel, 
      Brussels, Belgium. urielle.ullmann@ipg.be
FAU - Unuane, David
AU  - Unuane D
FAU - Velkeniers, Brigitte
AU  - Velkeniers B
FAU - Lissens, Willy
AU  - Lissens W
FAU - Wuyts, Wim
AU  - Wuyts W
FAU - Bonduelle, Maryse
AU  - Bonduelle M
LA  - eng
PT  - Journal Article
DEP - 20121128
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution/*genetics
MH  - Family
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation/*genetics
MH  - Pedigree
MH  - *Penetrance
MH  - Phenotype
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC3658184
EDAT- 2012/11/29 06:00
MHDA- 2013/10/22 06:00
PMCR- 2014/06/01
CRDT- 2012/11/29 06:00
PHST- 2012/11/29 06:00 [entrez]
PHST- 2012/11/29 06:00 [pubmed]
PHST- 2013/10/22 06:00 [medline]
PHST- 2014/06/01 00:00 [pmc-release]
AID - ejhg2012241 [pii]
AID - 10.1038/ejhg.2012.241 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2013 Jun;21(6):695-7. doi: 10.1038/ejhg.2012.241. Epub 2012 Nov 
      28.