Menin mutations in patients with multiple endocrine neoplasia type 1

Eur J Endocrinol. 1997 Dec;137(6):684-7. doi: 10.1530/eje.0.1370684.

Abstract

Multiple endocrine neoplasia type 1 (MEN-1) is a familial cancer syndrome with parathyroid, pituitary and enteropancreatic tumors. The disease phenotype segregates with markers on chromosome 11q13. Very recently a new gene was cloned from this region and was found to carry mutations in 14 of 15 unrelated MEN-1 patients. The gene was termed menin and is predicted to code for a tumor suppressor protein of 610 amino acids, but its precise function is totally unknown. To confirm this finding we used PCR from genomic DNA and direct sequencing to analyze exons 2 through 10 of the menin gene in eight patients from four pedigrees with MEN-1 syndrome or an affected relative. We identified four different heterozygous mutations, three of them are novel: one nonsense mutation, one large deletion of 32 bp and two insertions, all of them located in exon 2. Our results confirm that patients with MEN-1 carry mutations in the menin gene.

MeSH terms

  • Adult
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Neoplasm Proteins / genetics*
  • Pedigree
  • Point Mutation
  • Polymorphism, Restriction Fragment Length
  • Proto-Oncogene Proteins*

Substances

  • MEN1 protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins