Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jun;21(6):695-7.
doi: 10.1038/ejhg.2012.241. Epub 2012 Nov 28.

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

Urielle Ullmann  1 , David Unuane, Brigitte Velkeniers, Willy Lissens, Wim Wuyts, Maryse Bonduelle
Affiliations

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

Urielle Ullmann et al. Eur J Hum Genet. 2013 Jun.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Genealogical tree of the reported MEN1 family and family member's data.
See this image and copyright information in PMC

References

    1. Piecha G, Chudek J, Wiecek A. Multiple endocrine neoplasia type 1. Eur J Intern Med. 2008;19:99–103. - PubMed
    1. Belar O, De la Hoz C, Pérez-Nanclares G, Castaño L, Gaztambide S, Spanish MEN1 Group Novel mutations in Men1, CDKN1b and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. Clin Endocrinol. 2012;76:719–724. - PubMed
    1. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 2008;29:22–32. - PubMed
    1. Pannett AA, Kennedy AM, Turner JJ, et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 2003;58:639–646. - PubMed
    1. Dreijerink KM, van Beek AP, Lentjes EG, et al. Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease. Eur J Endocrinol. 2005;153:741–746. - PubMed

Substances