What causes GTDC2-associated congenital muscular dystrophy (MDDGA8)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Recessive mutations in glycotransferase-like domain-containing protein 2 (GTDC2) are a rare cause of Walker-Warburg syndrome. [43]

The original description was based on whole exome sequencing of consanguineous Walker-Warburg affected families.

GTDC2 is predicted to be a glycotransferase and knockdown of this gene in zebrafish replicates many features of Walker-Warburg syndrome.

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