Abstract
Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Danish pedigree comprising 426 members, by using highly informative short tandem repeat polymorphisms and found the closest linkage of the disease gene (CCV) to a (CA) n dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at θ M = 0.025 θ F = 0.000), at a penetrance of 0.90. Using two additional chromosome 1 markers, we were able to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S214. The (enolase 1) gene has been mapped to this area; however, a mutation described in this gene did not give eye disease.
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Eiberg, H., Lund, A.M., Warburg, M. et al. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 96, 33–38 (1995). https://doi.org/10.1007/BF00214183
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DOI: https://doi.org/10.1007/BF00214183