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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,...

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Autores principales: Farrar, G. Jane, Carrigan, Matthew, Dockery, Adrian, Millington-Ward, Sophia, Palfi, Arpad, Chadderton, Naomi, Humphries, Marian, Kiang, Anna Sophia, Kenna, Paul F., Humphries, Pete
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
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.
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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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