title: A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
abstract: 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.affiliation: Center for Medical Genetics UZ Brussel Hospital, Vrije Universiteit Brussel, Brussels, Belgium. urielle.ullmann@ipg.be
authors.forename: Urielle
authors.initials: U
authors.lastname: Ullmann
authors.forename: David
authors.initials: D
authors.lastname: Unuane
authors.forename: Brigitte
authors.initials: B
authors.lastname: Velkeniers
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Maryse
authors.initials: M
authors.lastname: Bonduelle
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins