Reference : Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neopla...
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Poncin, Jacques [Université de Liège - ULiège > > Génétique >]
Abs, R. [> > > >]
Velkeniers, B. [> > > >]
Bonduelle, M. [ > > ]
Abramowicz, M. [> > > >]
Legros, Jean-Jacques [Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques >]
Verloes, Alain [Université de Liège - ULiège > > Génétique >]
Meurisse, Michel [Centre Hospitalier Universitaire de Liège - CHU > > Chirurgie abdominale- endocrinienne et de transplantation >]
Van Gaal, L. [> > > >]
Verellen, C. [ > > ]
Koulischer, L. [> >]
Beckers, Albert mailto [Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie >]
Human Mutation
Wiley Liss
Yes (verified by ORBi)
[en] Belgium ; DNA Mutational Analysis ; Female ; Frameshift Mutation/genetics ; Germ-Line Mutation/genetics ; Humans ; Male ; Microsatellite Repeats/genetics ; Multiple Endocrine Neoplasia Type 1/genetics ; Mutation, Missense/genetics ; Neoplasm Proteins/genetics ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Proto-Oncogene Proteins
[en] 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.
Researchers ; Professionals

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