Absence of alpha- and beta-dystroglycan is associated with Walker-Warburg syndrome
SourceNeurology, 84, 21, (2015), pp. 2177-2182
Article / Letter to editor
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Paediatrics - OUD tm 2017
SubjectRadboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 3: Disorders of movement RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. METHODS: Homozygosity mapping and exome sequencing, followed by Sanger sequencing of the obtained candidate gene, was performed. Expression of the candidate gene was tested by reverse transcription PCR. Patient fibroblasts were converted to myotubes, and the expression and function of dystroglycan was tested by Western blotting. RESULTS: We detected a homozygous loss-of-function frameshift mutation in the DAG1 gene and showed that this mutation results in a complete absence of both alpha- and beta-dystroglycan. CONCLUSIONS: A loss-of-function mutation in DAG1 can result in Walker-Warburg syndrome and is not embryonic lethal.
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