Overview
Gene (OMIM No.) |
|
Function of gene/protein |
|
Clinical phenotype (OMIM phenotype no.) |
|
Inheritance |
|
Ocular features |
|
Systemic features |
|
Key investigations |
|
Molecular diagnosis | Next generation sequencing
|
Management | Ocular |
Therapies under research |
|
Further information |
References
- Billingsley G, Santhiya ST, Paterson AD, et al. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006;79(4):702‐709
- Lampi KJ, Ma Z, Shih M, et al. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. J Biol Chem. 1997;272(4):2268‐2275
- Santhiya ST, Manisastry SM, Rawlley D, et al. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. Invest Ophthalmol Vis Sci. 2004;45(10):3599‐3607
- van Rens GL, Geurts van Kessel AH, Bloemendal H. Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2–>q13.1. Cytogenet Cell Genet. 1992;61(3):180‐183
- Zhou G, Zhou N, Hu S, Zhao L, Zhang C, Qi Y. A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis. 2010;16:1019‐1024