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Molecular and structural analysis of genetic variations in congenital cataract
OBJECTIVE: To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS: We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary re...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850972/ https://www.ncbi.nlm.nih.gov/pubmed/24319337 |
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author | Kumar, Manoj Agarwal, Tushar Kaur, Punit Kumar, Manoj Khokhar,, Sudarshan Dada, Rima |
author_facet | Kumar, Manoj Agarwal, Tushar Kaur, Punit Kumar, Manoj Khokhar,, Sudarshan Dada, Rima |
author_sort | Kumar, Manoj |
collection | PubMed |
description | OBJECTIVE: To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS: We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, beaded filament structural protein 1 (BFSP1), gap function protein, alpha 3 (GJA3), GJA8, and heat shock transcription factor 4 gene genes were amplified. Protein structure differences analysis was performed using Discovery Studio (DS) 2.0. RESULTS: The mean age of the patients was 17.45±16.51 months, and the age of onset was 1.618±0.7181 months. Sequencing analysis of 14 genes identified 18 nucleotide variations. Fourteen variations were found in the crystallin genes, one in Cx-46 (GJA3), and three in BFSP1. CONCLUSIONS: Congenital cataract shows marked clinical and genetic heterogeneity. Five nucleotide variations (CRYBA4:p.Y67N, CRYBB1:p.D85N, CRYBB1:p.E75K, CRYBB1:p.E155K, and GJA3:p.M1V) were predicted to be pathogenic. Variants in other genes might also be involved in maintaining lens development, growth, and transparency. The study confirms that the crystallin beta cluster on chromosome 22, Cx-46, and BFSP1 plays a major role in maintaining lens transparency. This study also expands the mutation spectrum of the genes associated with congenital cataract. |
format | Online Article Text |
id | pubmed-3850972 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-38509722013-12-06 Molecular and structural analysis of genetic variations in congenital cataract Kumar, Manoj Agarwal, Tushar Kaur, Punit Kumar, Manoj Khokhar,, Sudarshan Dada, Rima Mol Vis Research Article OBJECTIVE: To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS: We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, beaded filament structural protein 1 (BFSP1), gap function protein, alpha 3 (GJA3), GJA8, and heat shock transcription factor 4 gene genes were amplified. Protein structure differences analysis was performed using Discovery Studio (DS) 2.0. RESULTS: The mean age of the patients was 17.45±16.51 months, and the age of onset was 1.618±0.7181 months. Sequencing analysis of 14 genes identified 18 nucleotide variations. Fourteen variations were found in the crystallin genes, one in Cx-46 (GJA3), and three in BFSP1. CONCLUSIONS: Congenital cataract shows marked clinical and genetic heterogeneity. Five nucleotide variations (CRYBA4:p.Y67N, CRYBB1:p.D85N, CRYBB1:p.E75K, CRYBB1:p.E155K, and GJA3:p.M1V) were predicted to be pathogenic. Variants in other genes might also be involved in maintaining lens development, growth, and transparency. The study confirms that the crystallin beta cluster on chromosome 22, Cx-46, and BFSP1 plays a major role in maintaining lens transparency. This study also expands the mutation spectrum of the genes associated with congenital cataract. Molecular Vision 2013-11-24 /pmc/articles/PMC3850972/ /pubmed/24319337 Text en Copyright © 2013 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed. |
spellingShingle | Research Article Kumar, Manoj Agarwal, Tushar Kaur, Punit Kumar, Manoj Khokhar,, Sudarshan Dada, Rima Molecular and structural analysis of genetic variations in congenital cataract |
title | Molecular and structural analysis of genetic variations in congenital cataract |
title_full | Molecular and structural analysis of genetic variations in congenital cataract |
title_fullStr | Molecular and structural analysis of genetic variations in congenital cataract |
title_full_unstemmed | Molecular and structural analysis of genetic variations in congenital cataract |
title_short | Molecular and structural analysis of genetic variations in congenital cataract |
title_sort | molecular and structural analysis of genetic variations in congenital cataract |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850972/ https://www.ncbi.nlm.nih.gov/pubmed/24319337 |
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