Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.
A unique pedigree is presented which shows tuberous sclerosis in three generations of a family, in which two heterozygotes for the mutant gene were found to be clinically asymptomatic. A genetic model is proposed to explain these findings based upon the segregation of a second unlinked autosomal dominant gene modifying the expression of the gene for tuberous sclerosis.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014402:Tuberous Sclerosis / Q000235:genetics*