Phenotypic heterogeneity
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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
- ^ Thompson and Thompson, Medical genetics[full citation needed]