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Article

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Human molecular genetics - 1 May 2013

Buysse Karen, Riemersma Moniek, Powell Gareth, van Reeuwijk Jeroen, Chitayat David, Roscioli Tony, Kamsteeg Erik-Jan, van den Elzen Christa, van Beusekom Ellen, Blaser Susan, Babul-Hirji Riyana, Halliday William, Wright Gavin J, Stemple Derek L, Lin Yung-Yao, Lefeber Dirk J, van Bokhoven Hans

Abstract excerpt

Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by αDG causing a clinically heterogeneous group of congenital muscular dystrophies, commonly referred...

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Share to Dystroglycans
Share to Gene Knockdown Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Laminin

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation, Missense

Share to N-Acetylglucosaminyltransferases

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Source

Open in PubMed Open full text

Identifiers

PMID: 23359570
DOI: 10.1093/hmg/ddt021
PMCID: PMC3613162

Genes

FKRP
POMT1
POMT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.PMID 23359570Read ↗

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

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.Semantic proximity Read ↗

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.Semantic proximity Read ↗

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.Semantic proximity Read ↗

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.Semantic proximity Read ↗

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

Journey into muscular dystrophies caused by abnormal glycosylation.Semantic proximity Read ↗

Expanding the Phenotype of B3GALNT2-Related Disorders.Semantic proximity Read ↗

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.Semantic proximity Read ↗

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.Semantic proximity Read ↗

Muscular dystrophies due to defective glycosylation of dystroglycan.Semantic proximity Read ↗

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.Semantic proximity Read ↗

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