2. Academic Validation
  3. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

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

  • Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038.
Philip L Beales 1,  Elizabeth Bland,  Jonathan L Tobin,  Chiara Bacchelli,  Beyhan Tuysuz,  Josephine Hill,  Suzanne Rix,  Chad G Pearson,  Masatake Kai,  Jane Hartley,  Colin Johnson,  Melita Irving,  Nursel Elcioglu,  Mark Winey,  Masazumi Tada,  Peter J Scambler
Affiliations

Affiliation

  • 1 Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
PMID: 17468754 DOI: 10.1038/ng2038
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.

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