Abstract
A wide variety of different types of pathogenic mutation occur in the human genome, with many diverse mechanisms responsible for their generation. These types of mutation include single base-pair substitutions in coding, regulatory and splicing-relevant regions of human genes, and also micro-deletions, micro-insertions, duplications, repeat expansions, combined micro-insertions/deletions (“indels”), inversions, gross deletions and insertions, and complex rearrangements. A major goal of molecular genetic medicine is to be able to predict the nature of the clinical phenotype through ascertainment of the genotype. However, the extent to which this is feasible in medical genetics is very much disease, gene, and mutation dependent. The study of mutations in human genes is nevertheless of paramount importance for our understanding of the pathophysiology of inherited disorders and for optimizing diagnostic testing, as well as in guiding the design of new therapeutic approaches.
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Antonarakis, S.E., Cooper, D.N. (2010). Human Gene Mutation: Mechanisms and Consequences. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_12
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