ArticleHuman genetics2007
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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57 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.
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- Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.PLoS genetics · 2020Article
- Extracellular Control of Radial Glia Proliferation and Scaffolding During Cortical Development and Pathology.Frontiers in cell and developmental biology · 2020Review
- Developmental biology of the meninges.Genesis (New York, N.Y. : 2000) · 2019Review
- LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.BMC neurology · 2018Article
- Disorders of neurogenesis and cortical development.Dialogues in clinical neuroscience · 2018Review
- Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Comparative medicine · 2018Article
- Immunobiology of Inherited Muscular Dystrophies.Comprehensive Physiology · 2018Review
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- Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Brain pathology (Zurich, Switzerland) · 2016Article
- Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2016Review
- Malformations of cortical development and epilepsy.Cold Spring Harbor perspectives in medicine · 2015Review
- The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer.Cancer biology & therapy · 2015Article
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Authors and funding
15 authors at 7 institutions in 5 countries.
Funding
Abstract
Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of alpha-dystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (CMD) and severe mental retardation. These mutations are likely to retain some residual LARGE glycosyltransferase activity as indicated by residual alpha-dystroglycan glycosylation in patient cells. We hypothesized that more severe LARGE mutations are associated with a more severe CMD phenotype in humans. Here we report a 63-kb intragenic LARGE deletion in a family with Walker-Warburg syndrome (WWS), which is characterized by CMD, and severe structural brain and eye malformations. This finding demonstrates that LARGE gene mutations can give rise to a wide clinical spectrum, similar as for other genes that have a role in the post-translational modification of the alpha-dystroglycan protein.
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