Journal
NATURE GENETICS
Volume 39, Issue 6, Pages 727-729Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2038
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Funding
- Medical Research Council [G0601347] Funding Source: researchfish
- MRC [G0601347] Funding Source: UKRI
- Medical Research Council [G0801843, G0601347] Funding Source: Medline
- NIGMS NIH HHS [GM074746] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
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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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