IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy


Beales P. L. , Bland E., Tobin J. L. , Bacchelli C., Tuysuz B., Hill J., ...More

NATURE GENETICS, vol.39, no.6, pp.727-729, 2007 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 6
  • Publication Date: 2007
  • Doi Number: 10.1038/ng2038
  • Title of Journal : NATURE GENETICS
  • Page Numbers: pp.727-729

Abstract

Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.