title: Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
abstract: Acrocallosal syndrome (ACLS) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, facial dysmorphism, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay. Mutations in the KIF7 gene, encoding a molecule within the Sonic hedgehog (SHH) pathway, have been identified as causative for ACLS but also for the fatal hydrolethalus syndrome and some cases of Joubert syndrome. We report here on a Tunisian boy who shows the clinical characteristics of ACLS and was found to have a novel homozygous KIF7 nonsense mutation. Further, we summarize the current knowledge about the clinical spectrum associated with KIF7 mutations as well as genetic and/or phenotypic overlap with ciliopathies and other mutations in the SHH pathway.
authors.affiliation: Department of Human Genetics, Ruhr University, Bochum, Germany.
authors.forename: Aysegül
authors.initials: A
authors.lastname: Ibisler
authors.affiliation: Center for and Department of Human Genetics, University of Regensburg, Regensburg, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Hehr
authors.affiliation: Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany.
authors.forename: Andre
authors.initials: A
authors.lastname: Barth
authors.affiliation: Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany.
authors.forename: Margarete
authors.initials: M
authors.lastname: Koch
authors.affiliation: Department of Human Genetics, Ruhr University, Bochum, Germany.
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.affiliation: Department of Human Genetics, Ruhr University, Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
keywords: Acrocallosal syndrome; Agenesis of corpus callosum; Ciliopathy; KIF7; Sonic hedgehog pathway