| Institution: | 1. Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappoport Faculty of Medicine, The Technion, Haifa, Israel;2. Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel;3. Institute of Human Genetics and Metabolic Disorders, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel;4. Pediatric Neurology and Development Unit, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel;5. The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel;6. Center for Integrative Brain Research, Seattle Children''s Research Institute, Seattle, WA, USA;g. Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel |
| Abstract: | ObjectivesTo elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family.MethodsWe analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.ResultsThe imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).ConclusionsThe novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene. |
