Multiple endocrine neoplasia type 1(Burin) from Mauritius: A novel MEN 1 mutation

We describe a kindred from Mauritius with an incomplete variant of multiple endocrine neoplasia type 1 (MEN1(Burin)). In this family the syndrome is r elated to a novel MEN 1 gene mutation (deletion of A) at nucleotide 1021 of codon 304 resulting in frame shift and downstream protein truncation at co don 320. Compared to mainstream MEN1, MEN1(Burin) is characterized by a hig h prevalence of prolactin-secreting pituitary adenomas, late-onset of hyper parathyroidism and rare pancreatic involvement. The family described repres ents the fifth in the literature with the MEN1(Burin) phenotype; 2 out of t he other 4 were related to R460X, Y312X respectively and no mutation within the coding sequence of MEN 1 was found in the other 2. Thus, similar to th e classic syndrome, MEN 1 Burin phenotype shows poor correlation to MEN I g enotype. (C) 2001, Editrice Kurtis.