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The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

Human mutation - 1 May 2006

van Reeuwijk Jeroen, Maugenre Svetlana, van den Elzen Christa, Verrips Aad, Bertini Enrico, Muntoni Francesco, Merlini Luciano, Scheffer Hans, Brunner Han G, Guicheney Pascale, van Bokhoven Hans

Abstract excerpt

The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS patients are characterized by congenital muscular dystrophy (CMD) with severe brain and eye abnormalities. This...

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Identifiers

PMID: 16575835
DOI: 10.1002/humu.20313

Genes

POMT1

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Related research

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The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.PMID 16575835Read ↗

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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Semantic proximity Read ↗

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