Phenotypic heterogeneity explained

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] [2] [3]}

Notes and References

1. Thompson and Thompson, Medical genetics
2. Ackermann . Martin . August 2015 . A functional perspective on phenotypic heterogeneity in microorganisms . Nature Reviews Microbiology . en . 13 . 8 . 497–508 . 10.1038/nrmicro3491 . 26145732 . 29846214 . 1740-1534.
3. Sumner . Edward R. . Avery . Simon V. . February 2002 . Phenotypic heterogeneity: differential stress resistance among individual cells of the yeast Saccharomyces cerevisiae . Microbiology . 148 . Pt 2 . 345–351 . 10.1099/00221287-148-2-345 . 1350-0872 . 11832498. free .