- Overview
- Microphthalmia, anophthalmia, coloboma (MAC)
- Congenital cataracts
- Anterior segment dysgenesis
- Congenital glaucoma
- References
Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular
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Therapies under research |
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Further information |
References
- Stevens E, Carss KJ, Cirak S, et al. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of a-Dystroglycan. Am J Hum Genet 2013; 92: 354–365
- Yoshida-Moriguchi T, Willer T, Anderson ME, et al. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (80- ) 2013; 341: 896–899
- Hiruma T, Togayachi A, Okamura K, et al. A Novel Human β1,3-N-Acetylgalactosaminyltransferase That Synthesizes A Unique Carbohydrate Structure, GalNAcβ1-3GlcNAc. J Biol Chem 2004; 279: 14087–14095
- Francisco R, Pascoal C, Marques-da-Silva D, et al. Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review. J Inherit Metab Dis. 2019;42(1):29-48