- 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
- Yoshida A, Kobayashi K, Manya H, et al. Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1. Dev Cell 2001; 1: 717–724
- Kano H, Kobayashi K, Tachikawa M, et al. Deficiency of α-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun 2002; 291: 1283–1286
- Teber S, Sezer T, Kafalı M, et al. Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene. Eur J Paediatr Neurol 2008; 12: 133–136
- Raducu M, Baets J, Fano O, et al. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet 2012; 20: 945–952
- Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725–2735
- 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
- Xu M, Yamada T, Sun Z, et al. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016;25(8):1479-1488
- Wang NH, Chen SJ, Yang CF, et al. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2016;57(8):3601-3609