Title
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseasesMutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Research group
Endocrinologie
Laboratory Experimental Medicine and Pediatrics (LEMP)
Publication type
article
Publication
New York, N.Y.,
Subject
Human medicine
Source (journal)
Human mutation. - New York, N.Y.
Volume/pages
13(1999):1, p. 54-60
ISSN
1059-7794
ISI
000077700000006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic function which probably acts as a tumor suppressor. Several mutations causing the MEN1 phenotype have been recently identified. In order to determine the spectrum of MEN1 gene mutations in a sample of 25 Belgian patients, we have systematically screened the 10 exons and adjacent sequences of the MEN1 gene by means of an automatic sequencing protocol. Twelve different mutations were identified including nonsense, frameshift, splicing, and missense mutations. Two of these mutations ( D172Y and 357del4) occurred more than once. A missense mutation was also found in a kindred with familial hyperparathyroidism. We observed no significant correlation between the nature or position of mutation and the clinical status. We have also detected 6 intragenic polymorphisms and DNA sequence variants and have analyzed their frequencies in our population. Hum Mutat 13:54-60, 1999. (C) 1999 Wiley-Liss, Inc.
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