Absence of alpha- and beta-dystroglycan is associated with Walker-Warburg syndrome

Moniek Riemersma, Hanna Mandel, Ellen van Beusekom, Isabella Gazzoli, Tony Roscioli, Ayelet Eran, Ruth Gershoni-Baruch, Moran Gershoni, Shmuel Pietrokovski, Lisenka E. Vissers, Dirk J. Lefeber, Michel A. Willemsen, Ron A. Wevers, Hans van Bokhoven*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review


    To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications.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.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 ?- and ?-dystroglycan.A loss-of-function mutation in DAG1 can result in Walker-Warburg syndrome and is not embryonic lethal.? 2015 American Academy of Neurology.
    Original languageEnglish
    Pages (from-to)2177-2182
    Issue number21
    Publication statusPublished - 26 May 2015

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