Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences

Antonarakis, Stylianos E. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2013. Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences. Rimoin, David L., Pyeritz, Reed E. and Korf, Bruce, eds. Emery and Rimoin's Principles and Practice of Medical Genetics, Elsevier, pp. 1-48. (10.1016/B978-0-12-383834-6.00007-0)

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Abstract

A wide variety of different types of pathogenic mutation occur in the human genome: single base-pair substitutions in coding, regulatory and splicing-relevant regions of human genes (67%), as well as micro-deletions (15.6%), micro-insertions (6.5%), gross insertions and duplications (1.4%), repeat expansions (0.3%), combined micro-insertions/-deletions (“indels”) (1.5%), gross deletions (6.6%), inversions and other complex rearrangements (1.0%). Characterized mutations occur not only in coding sequences but also in promoter regions, splice junctions, and within introns and untranslated regions, and noncoding RNAs. Different types of human gene mutation may vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. A major goal of molecular 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 understanding the pathophysiology of inherited disorders, for optimizing diagnostic testing and guiding the design of emergent therapies.

Item Type:	Book Section
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Publisher:	Elsevier
ISBN:	9780123838346
Last Modified:	28 Oct 2022 09:29
URI:	https://orca.cardiff.ac.uk/id/eprint/74688

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