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Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity
Author(s) -
Lund Allan M.,
Eiberg Hans,
Rosenberg Thomas,
Warburg Mette
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03634.x
Subject(s) - genetics , genetic heterogeneity , genetic linkage , linkage (software) , danish , medicine , biology , phenotype , gene , linguistics , philosophy
Lund AM, Eiberg H, Rosenberg T, Warburg M. Autosomal dominant cataract; linkage relations; clinical and genetic heterogeneity. Clin Genet 1992:41:65–69. Congenital cataract is a heterogeneous disorder. Approximately one third of the cases are hereditary. A large family with autosomal dominant congenital cataract is described here. Clinical examinations showed variable expressivity, but all affected persons were eventually operated, most of them in the first or second decade of life. Linkage relations with a number of polymorphic marker systems were studied, all of them being negative. Among the 21 systems studied were Fy, HP, DI6S4 and CRYG. The present autosomal dominant congenital cataract is termed the Volkman cataract, after the ancestor in the pedigree, and is genotypically different from the Marner cataract found in another large Danish pedigree.