title: The many faces of KIF7.
abstract: 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 third consanguineous family, in which the index presented with intellectual disability but no overt signs of ciliopathy, and his brain magnetic resonance imaging revealed an isolated dysgenesis of corpus callosum. This small cohort contributes novel pathogenic alleles of KIF7 and suggests that KIF7-related phenotypes can include isolated dysgenesis of corpus callosum with intellectual disability, thus expanding the range of phenotypes that warrant sequencing of this gene.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center , Riyadh, Saudi Arabia.
authors.forename: Duna
authors.initials: D
authors.lastname: Barakeh
authors.affiliation: Department of Pediatric Subspecialties, Children's Specialist Hospital, King Fahad Medical City , Riyadh, Saudi Arabia.
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center , Riyadh, Saudi Arabia.
authors.forename: Shams
authors.initials: S
authors.lastname: Anazi
authors.affiliation: Department of Pharmacognosy, College of Pharmacy, King Saud University , Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: S Al-Dosari
authors.affiliation: Department of Pediatrics, King Fahad Armed Forces Hospital , Jeddah, Saudi Arabia.
authors.forename: Ameen
authors.initials: A
authors.lastname: Softah
authors.affiliation: Department of Radiology, College of Medicine, King Saud University , Riyadh, Saudi Arabia.
authors.forename: Fahad
authors.initials: F
authors.lastname: Albadr
authors.affiliation: Department of Radiology, College of Medicine, King Saud University , Riyadh, Saudi Arabia.
authors.forename: Hamdy
authors.initials: H
authors.lastname: Hassan
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center , Riyadh, Saudi Arabia.
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.identifier: 0000-0003-4158-341X
authors.initials: FS
authors.lastname: Alkuraya