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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