- 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 | |
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
- 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
- Van Reeuwijk J, Janssen M, Van Den Elzen C, et al. POMT2 mutations cause a-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005; 42: 907–912
- Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008; 64: 573–582
- Yanagisawa A, Bouchet C, Quijano-Roy S, et al. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med Genet. 2009;52(4):201-206
- Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study [published correction appears in Neurology. 2019 Aug 20;93(8):371]. Neurology. 2009;72(21):1802-1809
- Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130(Pt 10):2725-2735