About: 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).

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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). (en)
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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). (en)
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  • Phenotypic heterogeneity (en)
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