Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

@article{Alby2015MutationsIK,
  title={Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.},
  author={Caroline Alby and Kevin Piquand and C{\'e}line Huber and Andr{\'e} M{\'e}garban{\'e} and Amale Ichkou and Marine Legendre and Fanny Pelluard and Ferecht{\'e} Encha-Ravazi and Georges Abi-Tayeh and Bettina Bessi{\`e}res and Salima El Chehadeh-Djebbar and Nicole M Laurent and Laurence Faivre and L{\'a}szl{\'o} K. Sztriha and Melinda Zombor and Hajnalka Szab{\'o} and Marion Failler and Meriem Garfa-Traor{\'e} and Christine Bole and Patrick Linsel Nitschke and M Nizon and Nadia Elkhartoufi and F. Clerget-Darpoux and Arnold Munnich and Stanislas Lyonnet and Michel Vekemans and Sophie Saunier and Val{\'e}rie Cormier-Daire and Tania Atti{\'e}-Bitach and Sophie Thomas},
  journal={American journal of human genetics},
  year={2015},
  volume={97 2},
  pages={311-8}
}
KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as… CONTINUE READING
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