- Overview
- Congenital cataract
- Anterior segment dysgenesis
- Microphthalmia, anophthalmia, coloboma (MAC)
- Additional information
- 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 |
Therapies under research |
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Further information |
Additional information
Apart from cataract, additional ocular abnormalities such as microcornea and MAC have been reported in patients harbouring the following CRYAA variants:
- Heterozygous p.Arg12Cys (microcornea, MAC and macrocephaly)[3]
- Heterozygous p.Arg116Cys (microcornea and MAC)[4,5]
- Heterozygous p.Arg116His (microcornea and/or corneal opacity)[6,7]
- Homozygous p.Arg54Cys (microcornea)[8]
References
- Brady JP, Garland D, Duglas-Tabor Y, Robison WG Jr, Groome A, Wawrousek EF. Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. Proc Natl Acad Sci U S A. 1997;94(3):884‐889. doi:10.1073/pnas.94.3.884
- Cobb BA, Petrash JM. Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. Biochemistry. 2000;39(51):15791‐15798. doi:10.1021/bi001453j
- Reis LM, Tyler RC, Muheisen S, et al. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013;132(7):761-770
- Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet. 1998;7(3):471‐474. doi:10.1093/hmg/7.3.471
- Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morlé L. New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. Arch Ophthalmol. 2007;125(2):213-216
- Hansen L, Yao W, Eiberg H, et al. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. 2007;48(9):3937‐3944. doi:10.1167/iovs.07-0013
- Richter L, Flodman P, Barria von-Bischhoffshausen F, et al. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet A. 2008;146A(7):833‐842. doi:10.1002/ajmg.a.32236
- Khan AO, Aldahmesh MA, Meyer B. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Am J Ophthalmol. 2007;144(6):949‐952. doi:10.1016/j.ajo.2007.08.005