Ontology highlight
ABSTRACT:
SUBMITTER: Putoux A
PROVIDER: S-EPMC3674836 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Nature genetics 20110508 6
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI transcription factor targets and impaired GLI3 processing in tissues from individuals with ...[more]