Journal of Endocrinological Investigation

, Volume 24, Issue 10, pp 806–810 | Cite as

Multiple endocrine neoplasia type 1Burin from Mauritius: A novel MEN 1 mutation1

  • C. Kong
  • S. Ellard
  • C. Johnston
  • Nadir R. Farid
Case Report


We describe a kindred from Mauritius with an incomplete variant of multiple endocrine neoplasia type 1 (MEN 1Burin). In this family the syndrome is related 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 codon 320. Compared to mainstream MEN 1, MEN 1Burin is characterized by a high prevalence of prolactin-secreting pituitary adenomas, late-onset of hyperparathyroidism and rare pancreatic involvement. The family described represents the fifth in the literature with the MEN 1Burin phenotype; 2 out of the 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 the classic syndrome, MEN 1Burin phenotype shows poor correlation to MEN 1 genotype.


MEN 1 Burin variant menin deletion mutation frameshift 


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Copyright information

© Italian Society of Endocrinology (SIE) 2001

Authors and Affiliations

  • C. Kong
    • 1
  • S. Ellard
    • 2
  • C. Johnston
    • 1
  • Nadir R. Farid
    • 1
  1. 1.Department of EndocrinologyHemel Hempstead General HospitalHemel HempsteadUK
  2. 2.Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health SciencesUniversity of Exeter and The Molecular Genetics Laboratory, Royal Devon and Exeter HospitalExeterUK

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