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Toward an elucidation of the molecular genetics of inherited retinal degenerations
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive,...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886474/ https://www.ncbi.nlm.nih.gov/pubmed/28510639 http://dx.doi.org/10.1093/hmg/ddx185 |
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author | Farrar, G. Jane Carrigan, Matthew Dockery, Adrian Millington-Ward, Sophia Palfi, Arpad Chadderton, Naomi Humphries, Marian Kiang, Anna Sophia Kenna, Paul F. Humphries, Pete |
author_facet | Farrar, G. Jane Carrigan, Matthew Dockery, Adrian Millington-Ward, Sophia Palfi, Arpad Chadderton, Naomi Humphries, Marian Kiang, Anna Sophia Kenna, Paul F. Humphries, Pete |
author_sort | Farrar, G. Jane |
collection | PubMed |
description | While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP). However, targeted sequencing studies of exons from known IRD genes have resulted in the identification of candidate mutations in only approximately 60% of IRD cases. Given recent advances in the development of gene-based medicines, characterization of IRD patient cohorts for known IRD genes and elucidation of the molecular pathologies of disease in those remaining unresolved cases has become an endeavor of the highest priority. Here, we provide an outline of progress in this area. |
format | Online Article Text |
id | pubmed-5886474 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-58864742018-04-09 Toward an elucidation of the molecular genetics of inherited retinal degenerations Farrar, G. Jane Carrigan, Matthew Dockery, Adrian Millington-Ward, Sophia Palfi, Arpad Chadderton, Naomi Humphries, Marian Kiang, Anna Sophia Kenna, Paul F. Humphries, Pete Hum Mol Genet Invited Reviews While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP). However, targeted sequencing studies of exons from known IRD genes have resulted in the identification of candidate mutations in only approximately 60% of IRD cases. Given recent advances in the development of gene-based medicines, characterization of IRD patient cohorts for known IRD genes and elucidation of the molecular pathologies of disease in those remaining unresolved cases has become an endeavor of the highest priority. Here, we provide an outline of progress in this area. Oxford University Press 2017-08-01 2017-05-16 /pmc/articles/PMC5886474/ /pubmed/28510639 http://dx.doi.org/10.1093/hmg/ddx185 Text en © The Author 2017. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Invited Reviews Farrar, G. Jane Carrigan, Matthew Dockery, Adrian Millington-Ward, Sophia Palfi, Arpad Chadderton, Naomi Humphries, Marian Kiang, Anna Sophia Kenna, Paul F. Humphries, Pete Toward an elucidation of the molecular genetics of inherited retinal degenerations |
title | Toward an elucidation of the molecular genetics of inherited retinal degenerations |
title_full | Toward an elucidation of the molecular genetics of inherited retinal degenerations |
title_fullStr | Toward an elucidation of the molecular genetics of inherited retinal degenerations |
title_full_unstemmed | Toward an elucidation of the molecular genetics of inherited retinal degenerations |
title_short | Toward an elucidation of the molecular genetics of inherited retinal degenerations |
title_sort | toward an elucidation of the molecular genetics of inherited retinal degenerations |
topic | Invited Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886474/ https://www.ncbi.nlm.nih.gov/pubmed/28510639 http://dx.doi.org/10.1093/hmg/ddx185 |
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