| Autor: |
Ibisler A; Department of Human Genetics, Ruhr University, Bochum, Germany., Hehr U; Center for and Department of Human Genetics, University of Regensburg, Regensburg, Germany., Barth A; Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany., Koch M; Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany., Epplen JT; Department of Human Genetics, Ruhr University, Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr University, Bochum, Germany. |
| Abstrakt: |
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. |
