Ontology highlight
ABSTRACT:
SUBMITTER: Barakeh D
PROVIDER: S-EPMC4785560 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Human genome variation 20150226
Mutations in KIF7, the gene that encodes a component of the kinesin complex of anterograde intraflagellar transport in the cilia, have been reported to cause a range of phenotypes including hydrolethalis, acrocallosal syndrome and Joubert syndrome. In a cohort of patients with various neurogenetic phenotypes, we identified novel KIF7 mutations in two families that span the known phenotypic spectrum of KIF7-related disorders. Surprisingly, we also identified a novel truncating KIF7 mutation in a ...[more]