This project involved linkage analysis of a single large pedigree with multiple family members affected with punctate cataracts. Genotyping for a genome screen and linkage analyses have been completed. A detailed search for the locus involvedresulted in the identification of the gammaD-crystallin gene asthe responsible locus for this disorder in this family. Resultsof this study have recently been published: Stephan DA,Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD,RobbinsCM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH,Trent JM, Smith L, BrownsteinMJ. Progressive juvenile-onsetpunctate cataracts caused by mutation of the gammaD-crystallingene. Proc Natl Acad Sci U S A, 96(3):1008-12 (1999). - linkage, punctate cataracts, genetics, mapping - Human Subjects
| Stephan, D A; Gillanders, E; Vanderveen, D et al. (1999) Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A 96:1008-12 |
