Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • E Raffan
  • M A Soos
  • N Rocha
  • A Tuthill
  • Anni Rønfeldt Thomsen
  • C S Hyden
  • J W Gregory
  • P Hindmarsh
  • M Dattani
  • E Cochran
  • J Al Kaabi
  • P Gorden
  • I Barroso
  • Morling, Niels
  • S O'Rahilly
  • R K Semple
Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four unrelated patients with Somali ancestry. We aimed to investigate a possible genetic founder effect, and to study the mechanism of loss of function of the mutant receptor.
OriginalsprogEngelsk
TidsskriftDiabetologica
Vol/bind54
Udgave nummer5
Sider (fra-til)1057-65
Antal sider9
ISSN1432-0428
DOI
StatusUdgivet - 1 maj 2011

ID: 33883556