Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

✍ Scribed by Jacques Poncin; Roger Abs; Brigitte Velkeniers; Maryse Bonduelle; Marc Abramowicz; Jean-Jacques Legros; Alain Verloes; Michel Meurisse; Luc Van Gaal; Christine Verellen; Lucien Koulischer; Albert Beckers

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 378 KB
• Volume: 13
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)13:1<54::aid-humu6>3.0.co;2-k

✦ Synopsis

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 ) 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.