Article
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Nature genetics - 1 Jun 2007
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
Abstract excerpt
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...
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