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Article

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Orphanet journal of rare diseases - 9 Sept 2020

Paul Luisa, Rupprich Katrin, Della Marina Adela, Stein Anja, Elgizouli Magdeldin, Kaiser Frank J, Schweiger Bernd, Köninger Angela, Iannaccone Antonella, Hehr Ute, Kölbel Heike, Roos Andreas, Schara-Schmidt Ulrike, Kuechler Alma

Abstract excerpt

BACKGROUND: Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of alpha-dystroglycanopathies. POMK encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex and is crucial for...

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Identifiers

PMID: 32907597
DOI: 10.1186/s13023-020-01454-0
PMCID: PMC7488248

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Related research

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Further evidence for POMK as candidate gene for WWS with meningoencephalocele.PMID 32907597Read ↗

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 ↗

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.Semantic proximity Read ↗

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

Walker-Warburg syndrome.Semantic proximity Read ↗

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

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.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 ↗

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

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

Glyc-O-genetics of Walker-Warburg syndrome.Semantic proximity Read ↗

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