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
Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
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.
若恩致死性胸廓发育不良是一种常染色体隐性软骨发育不良疾病，由于胸廓严重狭窄和呼吸功能不全，常导致婴儿期死亡；视网膜变性、多囊肾病和多指畸形可能是其并发症。我们发现IFT80突变是部分若恩致死性胸廓发育不良病例的病因，首次证实了鞭毛内运输（IFT）蛋白缺陷与人类疾病的关联。在斑马鱼中敲低ift80会导致多囊肾，在嗜热四膜虫中敲低则会导致纤毛变短或缺失。
