Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1

Turner, Jeremy J. O., Leotlela, Poloko D., Pannett, Anna A. J., Forbes, Simon A., Bassett, J. H. Duncan, Harding, Brian, Christie, Paul T., Bowen-Jones, David, Ellard, Sian, Hattersley, Andrew, Jackson, Charles E., Pope, Richard, Quarrell, Oliver W., Trembath, Richard and Thakker, Rajesh V. (2002) Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. Journal of Clinical Endocrinology & Metabolism, 87 (6). pp. 2688-2693. ISSN 0021-972X

Full text not available from this repository. (Request a copy)


MEN1 is an autosomal dominant disorder characterized by parathyroid, pituitary, and pancreatic tumors. The MEN1 gene is located on chromosome 11q13 and encodes a 610-amino acid protein. MEN1 mutations are of diverse types and are scattered throughout the coding region, such that almost every MEN1 family will have its individual mutation. To further characterize such mutations we ascertained 34 unrelated MEN1 probands and undertook DNA sequence analysis. This identified 17 different mutations in 24 probands (2 nonsense, 2 missense, 2 in-frame deletions, 5 frameshift deletions, 1 frameshift deletional-insertion, 3 frameshift insertions, 1 donor splice site mutation, and a g→a transition that resulted in a novel acceptor splice site in intron 4). The intron 4 mutation was found in 7 unrelated families, and the tumors in these families varied considerably, indicating a lack of genotype-phenotype correlation. However, this intron 4 mutation is the most frequently occurring germline MEN1 mutation (∼10% of all mutations), and together with 5 others at codons 83–84, 118–119, 209–211, 418, and 516, accounts for 36.6% of all mutations, a finding that indicates an approach for identifying the widely diverse MEN1 mutations.

Item Type: Article
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Norwich Clinical Trials Unit
Depositing User: Rhiannon Harvey
Date Deposited: 16 May 2011 15:47
Last Modified: 19 Oct 2023 01:04
DOI: 10.1210/jc.87.6.2688

Actions (login required)

View Item View Item