| First Author | Berry V | Year | 2001 |
| Journal | Am J Hum Genet | Volume | 69 |
| Issue | 5 | Pages | 1141-5 |
| PubMed ID | 11577372 | Mgi Jnum | J:72441 |
| Mgi Id | MGI:2152682 | Doi | 10.1086/324158 |
| Citation | Berry V, et al. (2001) Alpha-b crystallin gene (cryab) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 69(5):1141-5 |
| abstractText | Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D11S898, near the gene that encodes crystallin alpha-B protein (CRYAB). By sequencing the coding regions of CRYAB, we found in exon 3 a deletion mutation, 450delA, that is associated with cataract in this family. The mutation resulted in a frameshift in codon 150 and produced an aberrant protein consisting of 184 residues. This is the first report of a mutation, in this gene, resulting in isolated congenital cataract. |
