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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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English
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European journal of human genetics / European Society of Human Genetics. - Leiden | |
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Leiden : 2013
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1018-4813
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21:6(2013), p. 695-697
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| ISI |
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000319497700025
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