- Overview
- Microphthalmia, anophthalmia, coloboma (MAC)
- Anterior segment dysgenesis
- Congenital cataracts
- 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
- Manya H, Chiba A, Yoshida A, et al. Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A 2004; 101: 500–505
- Akasaka-Manya K, Manya H, Endo T. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Biochem Biophys Res Commun 2004; 325: 75–79
- Akasaka-Manya K, Manya H, Nakajima A, et al. Physical and functional association of human protein O-mannosyltransferases 1 and 2. J Biol Chem 2006; 281: 19339–19345
- Beltrán-Valero De Bernabé D, Currier S, Steinbrecher A, et al. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome. Am J Hum Genet 2002; 71: 1033–1043
- Kim DS, Hayashi YK, Matsumoto H, et al. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. Neurology 2004; 62: 1009–1011
- 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