IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy |
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Authors: | Beales Philip L Bland Elizabeth Tobin Jonathan L Bacchelli Chiara Tuysuz Beyhan Hill Josephine Rix Suzanne Pearson Chad G Kai Masatake Hartley Jane Johnson Colin Irving Melita Elcioglu Nursel Winey Mark Tada Masazumi Scambler Peter J |
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Institution: | Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. |
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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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