1. A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype
- Author
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David Unuane, Brigitte Velkeniers, Willy Lissens, Wim Wuyts, Maryse Bonduelle, Urielle Ullmann, Department of Embryology and Genetics, and Internal Medicine Specializations
- Subjects
Adult ,Male ,Heterozygote ,congenital, hereditary, and neonatal diseases and abnormalities ,endocrine system ,endocrine system diseases ,Short Report ,Penetrance ,Biology ,Cancer syndrome ,Exon ,Germline mutation ,Proto-Oncogene Proteins ,Multiple Endocrine Neoplasia Type 1 ,Genetics ,medicine ,Humans ,Family ,MEN1 ,Multiple endocrine neoplasia ,Genetics (clinical) ,Point mutation ,medicine.disease ,Pedigree ,Chemistry ,Phenotype ,Amino Acid Substitution ,Mutation ,Mutation (genetic algorithm) ,Cancer research ,Female ,Human medicine - 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.
- Published
- 2012
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