Document Detail


A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
MedLine Citation:
PMID:  23188049     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Urielle Ullmann; David Unuane; Brigitte Velkeniers; Willy Lissens; Wim Wuyts; Maryse Bonduelle
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Publication Detail:
Type:  Journal Article     Date:  2012-11-28
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-05-16     Completed Date:  2013-10-21     Revised Date:  2014-06-03    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  695-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Amino Acid Substitution / genetics*
Family
Female
Heterozygote
Humans
Male
Multiple Endocrine Neoplasia Type 1 / genetics*
Mutation / genetics*
Pedigree
Penetrance*
Phenotype
Proto-Oncogene Proteins / genetics*
Chemical
Reg. No./Substance:
0/MEN1 protein, human; 0/Proto-Oncogene Proteins
Comments/Corrections

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