Chapter 064. The Practice of Genetics in Clinical Medicine (Part 4)
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Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 357), long QT syndrome (Chap. 226), muscular dystrophy (Chap. 382), homocystinuria (Chap. 358), retinitis pigmentosa (Chap. 29), and hereditary predisposition to colon cancer (Chap. 87) or breast cancer (Chap. 86) can each be caused by mutations in distinct genes. The pattern of disease transmission, clinical course, and treatment may differ significantly, depending on the specific gene affected. In these cases, the choice of which genes to test is often determined by...
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