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. 1979 Feb;16(1):32-5.
doi: 10.1136/jmg.16.1.32.

Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene

A R Rushton, B A Shaywitz

Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene

A R Rushton et al. J Med Genet. 1979 Feb.

Abstract

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.

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