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Analysis of rod-cone dystrophy genes reveals unique mutational patterns
BACKGROUND: Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations’ prevalence and does not consider the implication of the same gene in dif...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812813/ https://www.ncbi.nlm.nih.gov/pubmed/36618607 http://dx.doi.org/10.1136/bmjos-2022-100291 |
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author | Jaffal, Lama Ibrahim, Mariam El Shamieh, Said |
author_facet | Jaffal, Lama Ibrahim, Mariam El Shamieh, Said |
author_sort | Jaffal, Lama |
collection | PubMed |
description | BACKGROUND: Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations’ prevalence and does not consider the implication of the same gene in different phenotypes. Therefore, we first investigated the mutations occurrence in autosomal recessive RCD (arRCD) and non-arRCD conditions. Then, finally, we identified arRCD enriched mutational patterns in specific genes and coding exons. METHODS AND RESULTS: The mutations patterns differed according to arRCD (p=0.001). Specifically, When compared with missense; insertions/deletions (OR=1.2, p=0.007), nonsense (OR=1.2, p=0.014) and splice-site mutations (OR=1.6, p=0.038) increased the OR of arRCD by 20%–60% versus non-arRCD conditions. The gene-based analysis identified that EYS, IMPG2, RP1L1 and USH2A mutations were enriched in arRCD (p<0.05). The exon-based analysis revealed specific mutation patterns in exons of CRB1, RP1L1 and exons 12, 60 and 62 coding for Laminin EGF and FTIII domains of USH2A. CONCLUSION: The current analysis showed that many aRCD genes have unique mutational patterns. |
format | Online Article Text |
id | pubmed-9812813 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-98128132023-01-05 Analysis of rod-cone dystrophy genes reveals unique mutational patterns Jaffal, Lama Ibrahim, Mariam El Shamieh, Said BMJ Open Sci Original Research BACKGROUND: Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations’ prevalence and does not consider the implication of the same gene in different phenotypes. Therefore, we first investigated the mutations occurrence in autosomal recessive RCD (arRCD) and non-arRCD conditions. Then, finally, we identified arRCD enriched mutational patterns in specific genes and coding exons. METHODS AND RESULTS: The mutations patterns differed according to arRCD (p=0.001). Specifically, When compared with missense; insertions/deletions (OR=1.2, p=0.007), nonsense (OR=1.2, p=0.014) and splice-site mutations (OR=1.6, p=0.038) increased the OR of arRCD by 20%–60% versus non-arRCD conditions. The gene-based analysis identified that EYS, IMPG2, RP1L1 and USH2A mutations were enriched in arRCD (p<0.05). The exon-based analysis revealed specific mutation patterns in exons of CRB1, RP1L1 and exons 12, 60 and 62 coding for Laminin EGF and FTIII domains of USH2A. CONCLUSION: The current analysis showed that many aRCD genes have unique mutational patterns. BMJ Publishing Group 2022-12-13 /pmc/articles/PMC9812813/ /pubmed/36618607 http://dx.doi.org/10.1136/bmjos-2022-100291 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Original Research Jaffal, Lama Ibrahim, Mariam El Shamieh, Said Analysis of rod-cone dystrophy genes reveals unique mutational patterns |
title | Analysis of rod-cone dystrophy genes reveals unique mutational patterns |
title_full | Analysis of rod-cone dystrophy genes reveals unique mutational patterns |
title_fullStr | Analysis of rod-cone dystrophy genes reveals unique mutational patterns |
title_full_unstemmed | Analysis of rod-cone dystrophy genes reveals unique mutational patterns |
title_short | Analysis of rod-cone dystrophy genes reveals unique mutational patterns |
title_sort | analysis of rod-cone dystrophy genes reveals unique mutational patterns |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812813/ https://www.ncbi.nlm.nih.gov/pubmed/36618607 http://dx.doi.org/10.1136/bmjos-2022-100291 |
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