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Article

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

American journal of medical genetics. Part A - 15 Feb 2005

Currier Sophie C, Lee Christine K, Chang Bernard S, Bodell Adria L, Pai G Shashidhar, Job Leela, Lagae Lieven G, Al-Gazali Lihadh I, Eyaid Wafaa M, Enns Greg, Dobyns William B, Walsh Christopher A

Abstract excerpt

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons through a disrupted pial surface resulting in leptomeningeal heterotopia. Although previous work identified mutations in the o-mannosyl transferase, POMT1, in 6 out of 30 WWS families [Beltran-Valero de Bernabe et al.,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15637732
DOI: 10.1002/ajmg.a.30487

Genes

POMT1

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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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.PMID 15637732Read ↗

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

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.Semantic proximity Read ↗

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Semantic proximity Read ↗

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.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 ↗

Walker-Warburg syndrome.Semantic proximity Read ↗

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersSemantic proximity Read ↗

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.Semantic proximity Read ↗

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

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.Semantic proximity Read ↗

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Semantic proximity Read ↗

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.Semantic proximity Read ↗

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