What causes SGK196-associated congenital muscular dystrophy (MDDGA12)?

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

Heterozygous missense mutations in protein kinase-like protein SGK196 in one family caused a Walker-Warburg phenotype. [46]

  • Hypotonia, weakness, CK of 7000 U/L, and a muscle biopsy showing dystrophy are noted.

  • Eye abnormalities include hyperplastic primary vitreous, myopia, and microphthalmia.

  • Brain abnormalities include hydrocephalus, agyria, and hypoplasia of the cerebellum and brainstem.

SGK196 was identified as likely required for glycosylation of a-dystroglycan.

  • A haploid screen for the Lassa virus, which hijacks glycosylated a-dystroglycan to enter cells, was used to identify cells with the absence of a-dystroglycan carbohydrate chains or biochemically related chains.

  • Knockout mice have hydrocephalus and cerebellar dysplasia.


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