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Pathogenic variants in non-protein-coding sequences.

Authors
  • Makrythanasis, P
  • Antonarakis, S E
Type
Published Article
Journal
Clinical Genetics
Publisher
Wiley (Blackwell Publishing)
Publication Date
Nov 01, 2013
Volume
84
Issue
5
Pages
422–428
Identifiers
DOI: 10.1111/cge.12272
PMID: 24007299
Source
Medline
Keywords
License
Unknown

Abstract

There are approximately 3000 human protein-coding genes that have been linked with (near) monogenic disorders. This knowledge reflects the past and present focus on protein-coding genes as the main reservoir of pathogenic variation in the human genome. However, the 'Medical Genome' includes all the functional genomic elements for which genotypic variability is a source of pathogenic phenotypes. This short review focuses on examples of pathogenic variants in non-protein-coding gene regions. It is likely that the evolving methods of DNA sequencing and functional characterization of the genome will enhance our understanding of the contribution by all functional genomic elements in both Mendelian and complex phenotypes.

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