Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland

Shodimu Emmanuel Olufemi, Jane S. Green, Pachiappan Manickam, Siradanahalli C. Guru, Sunita K. Agarwal, Mary Beth Kester, Qihan Dong, A. Lee Burns, Allen M. Spiegel, Stephen J. Marx, Francis S. Collins, Settara C. Chandrasekharappa

Research output: Contribution to journalArticle

96 Scopus citations

Abstract

Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with affected individuals developing parathyroid, gastrointestinal (GI) endocrine, and anterior pituitary tumors. Four large kindreds from the Burin peninsula/Fortune Bay area of Newfoundland with prominent features of prolactinomas, carcinoids, and parathyroid tumors (referred to as MEN1(Burin)) have been described, and they show linkage to 11q13, the same locus as that of MEN1. Haplotype analysis with 16 polymorphic markers now reveals that representative affected individuals from all four families share a common haplotype over a 2.5 Mb region. A nonsense mutation in the MEN1 gene has been found to be responsible for the disease in the affected members in all four of the MEN1(Burin) families, providing convincing evidence of a common founder.

Original languageEnglish (US)
Pages (from-to)264-269
Number of pages6
JournalHuman Mutation
Volume11
Issue number4
DOIs
StatePublished - May 1 1998
Externally publishedYes

Keywords

  • Founder effect
  • MEN1 gene
  • MEN1(Burin)
  • Menin
  • Newfoundland
  • Prolactinoma

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland'. Together they form a unique fingerprint.

  • Cite this

    Olufemi, S. E., Green, J. S., Manickam, P., Guru, S. C., Agarwal, S. K., Kester, M. B., Dong, Q., Burns, A. L., Spiegel, A. M., Marx, S. J., Collins, F. S., & Chandrasekharappa, S. C. (1998). Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland. Human Mutation, 11(4), 264-269. https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V