Ontology highlight
ABSTRACT:
SUBMITTER: Alby C
PROVIDER: S-EPMC4573270 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Alby Caroline C Piquand Kevin K Huber Céline C Megarbané André A Ichkou Amale A Legendre Marine M Pelluard Fanny F Encha-Ravazi Ferechté F Abi-Tayeh Georges G Bessières Bettina B El Chehadeh-Djebbar Salima S Laurent Nicole N Faivre Laurence L Sztriha László L Zombor Melinda M Szabó Hajnalka H Failler Marion M Garfa-Traore Meriem M Bole Christine C Nitschké Patrick P Nizon Mathilde M Elkhartoufi Nadia N Clerget-Darpoux Françoise F Munnich Arnold A Lyonnet Stanislas S Vekemans Michel M Saunier Sophie S Cormier-Daire Valérie V Attié-Bitach Tania T Thomas Sophie S
American journal of human genetics 20150709 2
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 wel ...[more]