Alternative titles; symbols
ORPHA: 441452, 91492, 98985, 98991, 98993; DO: 0110258;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q11.2 | Cataract 10, multiple types | 600881 | Autosomal dominant | 3 | CRYBA1 | 123610 |
A number sign (#) is used with this entry because multiple types of cataract (CTRCT10) are caused by heterozygous mutation in the CRYBA1 gene (123610), which encodes beta-A3/A1-crystallin, on chromosome 17q11.
Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.
The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'
Basti et al. (1996) described a 4-generation Indian family segregating autosomal dominant zonular cataracts with sutural opacities. All affected family members had bilaterally symmetric cataracts. The cataracts had a uniform zonular component that measured 3.5 to 4.0 in diameter, a pulverulent fetal nucleus comprising discrete white dots and well-defined, erect Y-shaped anterior and inverted Y-shaped posterior sutural cataracts with the area enclosed by the zonular component. The degree of opacification of the zonular layer varied among family members, ranging from a uniform dense opacity to a collection of fine dots forming a hazy cloud.
Qi et al. (2004) reported a Chinese family segregating autosomal dominant congenital nuclear cataract. They stated that nuclear cataract was first reported by Brown (1924). The opacity in nuclear cataract is located at the center of the lens and can have a marked effect on visual acuity.
In an Indian family segregating autosomal dominant zonular cataracts with sutural opacities, Padma et al. (1995) demonstrated linkage to chromosome 17q11-q12 with a maximum lod score of 3.9 at D17S805. Multipoint analysis gave a 1-lod confidence interval of 17 cM bounded by markers D17S799 and D17S798. Linkage studies in this family by Basti et al. (1996) excluded linkage to chromosomes 1, 2, and 16.
In a Chinese family segregating autosomal dominant congenital nuclear cataract, Qi et al. (2004) found linkage of the disorder to chromosome 17q11.1-q12.
In an Indian family with zonular cataract with sutural opacities described by Basti et al. (1996) and mapped to chromosome 17q by Padma et al. (1995), Kannabiran et al. (1998, 1999) identified a heterozygous splice site mutation in the CRYBA1 gene (123610.0001).
In affected members of a Chinese family segregating autosomal dominant congenital nuclear cataract, Qi et al. (2004) identified a heterozygous deletion in the CRYBA1 gene (123610.0002). The same deletion was identified by Reddy et al. (2004) in affected members of a British family with bilateral lamellar cataracts.
Hejtmancik (1998) presented a table of 9 loci, including this one, which had been implicated in nonsyndromal cataract and mapped to specific chromosomal sites. Eight animal models of cataract in which molecular defects had been identified were also tabulated.
Basti, S., Hejtmancik, J. F., Padma, T., Ayyagari, R., Kaiser-Kupfer, M. I., Murty, J. S., Rao, G. N. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. Am. J. Ophthal. 121: 162-168, 1996. [PubMed: 8623885] [Full Text: https://doi.org/10.1016/s0002-9394(14)70580-x]
Brown, A. L. Hereditary cataract. Am. J. Ophthal. 7: 36-38, 1924.
Hejtmancik, J. F. The genetics of cataract: our vision becomes clearer. (Editorial) Am. J. Hum. Genet. 62: 520-525, 1998. [PubMed: 9497271] [Full Text: https://doi.org/10.1086/301774]
Kannabiran, C., Rogan, P. K., Olmos, L., Basti, S., Rao, G. N., Kaiser-Kupfer, M., Hejtmancik, J. F. Autosomal dominant zonular cataract with sutural opacities is associated with a splice site mutation in the beta-A3/A1-crystallin gene. Molec. Vis. 4: 21, 1998. Note: Electronic Article. [PubMed: 9788845]
Kannabiran, C., Wawrousek, E., Sergeev, Y., Rao, G. N., Kaiser-Kupfer, M., Hejtmancik, J. F. Mutation of beta A3/A1 crystallin gene in autosomal dominant zonular cataract with sutural opacities results in a protein with single globular domain. (Abstract) Invest. Ophthal. Vis. Sci. 40: S786, 1999.
Padma, T., Ayyagari, R., Murty, J. S., Basti, S., Fletcher, T., Rao, G. N., Kaiser-Kupfer, M., Hejtmancik, J. F. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am. J. Hum. Genet. 57: 840-845, 1995. [PubMed: 7573044]
Qi, Y., Jia, H., Huang, S., Lin, H., Gu, J., Su, H., Zhang, T., Gao, Y., Qu, L., Li, D., Li, Y. A deletion mutation in the beta-A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum. Genet. 114: 192-197, 2004. [PubMed: 14598164] [Full Text: https://doi.org/10.1007/s00439-003-1049-7]
Reddy, M. A., Bateman, O. A., Chakarova, C., Ferris, J., Berry, V., Lomas, E., Sarra, R., Smith, M. A., Moore, A. T., Bhattacharya, S. S., Slingsby, C. Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum. Molec. Genet. 13: 945-953, 2004. [PubMed: 15016766] [Full Text: https://doi.org/10.1093/hmg/ddh110]