- Overview
- Congenital cataracts
- Microphthalmia, anophthalmia, coloboma (MAC)
- Additional information
- References
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 |
Additional information
Most congenital cataract cases due to pathogenic mutations in CRYBB1 gene are autosomal dominant in nature. The only autosomal recessive cases were reported by Cohen et al in affected family members of two unrelated consanguineous Bedouin families homozygous for a 1-base pair deletion in exon 2 of CRYBB1 (168delG).[1]
References
- Cohen D, Bar-Yosef U, Levy J, et al. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007;48(5):2208‐2213
- Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002;71(5):1216‐1221
- Wang KJ, Wang S, Cao NQ, Yan YB, Zhu SQ. A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. Hum Mutat. 2011;32(3):E2050‐E2060
- Willoughby CE, Shafiq A, Ferrini W, et al. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005;11:587‐593