What causes B3GALNT2-associated congenital muscular dystrophy (MDDGA11)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Recessive mutations in b-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) cause a Walker-Warburg or muscle-eye-brain disease phenotype. [45]

Presentation is with motor and cognitive delay, hypotonia, and hydrocephalus. Milder cases can take a few steps, with severe cases gaining no milestones. Epilepsy is common. Eye abnormalities include optic nerve hypoplasia, microphthalmia, and lens opacities. Severe brain involvement is present in all cases.

Immunostaining muscle for α-dystroglycan shows a reduction in functional glycosylation.

Knockdown of B3GALNT2 in zebrafish recapitulate the human phenotype.

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