What causes B3GNT1-associated congenital muscular dystrophy (CMD)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Two homozygous mutations in b-1,3-N-acetylglucoaminyltransferase (B3GNT1) in one family caused a Walker-Warburg syndrome. [47]

Features included hydrocephalus, Dandy-Walker malformation, cobblestone lissencephaly, cerebellar dysplasia, retinal dysplasia, seizures, and hypotonia.

Serum CK was elevated and muscle biopsy showed reduced glycosylation of a-dystroglycan.

Overexpression of B3GNT1 results in increased a-dystroglycan glycosylation.

Morpholino knockdown of zebrafish B3GNT1 results in a phenotype similar to Walker-Warburg syndrome.


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