Phenotypic heterogeneity

Phenotypic heterogeneity describes different mutations in the same gene that can sometimes give rise to strikingly different phenotypes.

E.g., certain loss-of-function mutations in the RET gene, which encodes a receptor tyrosine kinase, can cause dominantly inherited failure of development of colonic ganglia, leading to defective colonic motility and severe chronic constipation (Hirschsprung disease).^[1]

References

1. Thompson and Thompson, Medical genetics

External links

• Phenotypic heterogeneity: differential stress resistance among individual cells of the yeast Saccharomyces cerevisiae (Microbiology)