Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Somatic Mosaicism And Chromosomal Disorders

Some examples of single-gene diseases that are associated with somatic mosaicism are listed in Table 1. Hereditary tyrosinemia type I is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene; individuals with this disease often have mosaic livers that contain mutant and reverted cell populations. The groups of cells with the FAH reversion form nodules and appear to have a growth advantage.

Bloom syndrome is a single-gene autosomal recessive disorder associated with growth problems, immunodeficiency, and a predisposition for cancer. The gene associated with Bloom syndrome, called BLM, encodes an enzyme called DNA helicase that prevents DNA strands from getting too twisted during DNA replication. Patients with Bloom syndrome show high levels of recombination events between sister chromatids during mitosis.

Fanconi's anemia is associated with growth problems, skeletal abnormalities, loss of bone marrow function, and cancer susceptibility. Somatic mutations in several genes, including FANCA, FANCC, and FANCD2, have been linked with the onset of this disorder. Early evidence for somatic mosaicism in Fanconi's anemia was suggested by the observation that patients had two different populations of lymphocytes: one group of cells was susceptible to chromosome breaks, whereas the other was not.

Cytogenetic Methods In Diagnosing Genetic Disorders

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McKusick, V. A. Current trends in mapping human genes. FASEB Journal 5, 12–20 (1991) (link to article)

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Long-read Sequencing Technique Helps Analyze Chromosomal Abnormalities In Complex Health Conditions

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