Ontology highlight
ABSTRACT:
SUBMITTER: Alby C
PROVIDER: S-EPMC4573270 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
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]