Locus heterogeneity

Locus heterogeneity is a single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci. For example, retinitis pigmentosa has autosomal dominant, autosomal recessive, and X-linked origins. However, only one mutant locus is needed for the phenotype to manifest. Other examples are hypertrophic cardiomyopathy, osteogenesis imperfecta, Familial hypercholesterolemia.

See also

• Allelic heterogeneity
• List of cutaneous conditions caused by mutations in keratins