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Title
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A new double substitution mutation in the MEN1 gene : a limited penetrance and a specific phenotype
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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European journal of human genetics / European Society of Human Genetics. - Leiden
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Publication
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Leiden
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2013
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ISSN
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1018-4813
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DOI
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10.1038/EJHG.2012.241
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Volume/pages
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21
:6
(2013)
, p. 695-697
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ISI
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000319497700025
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Full text (Publisher's DOI)
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