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Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
PURPOSE: Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In t...
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/PMC3580970/ https://www.ncbi.nlm.nih.gov/pubmed/23441109 |
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author | Kondo, Yukiko Saitsu, Hirotomo Miyamoto, Toshinobu Lee, Byung Joo Nishiyama, Kiyomi Nakashima, Mitsuko Tsurusaki, Yoshinori Doi, Hiroshi Miyake, Noriko Kim, Jeong Hun Yu, Young Suk Matsumoto, Naomichi |
author_facet | Kondo, Yukiko Saitsu, Hirotomo Miyamoto, Toshinobu Lee, Byung Joo Nishiyama, Kiyomi Nakashima, Mitsuko Tsurusaki, Yoshinori Doi, Hiroshi Miyake, Noriko Kim, Jeong Hun Yu, Young Suk Matsumoto, Naomichi |
author_sort | Kondo, Yukiko |
collection | PubMed |
description | PURPOSE: Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract. METHODS: Two affected members from each family were pooled and processed for WES. The detected variants were confirmed with direct sequencing. RESULTS: WES readily identified a CRYAA mutation in family A and a CRYGC mutation in family B. The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. The novel mutation, c.124delT, in CRYGC may lead to a premature stop codon (p.C42Afs*60). CONCLUSIONS: This study clearly shows the efficacy of WES for rapid genetic diagnosis of congenital cataract with an unknown cause. WES will be the first choice for clinical services in the near future, providing useful information for genetic counseling and family planning. |
format | Online Article Text |
id | pubmed-3580970 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-35809702013-02-25 Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing Kondo, Yukiko Saitsu, Hirotomo Miyamoto, Toshinobu Lee, Byung Joo Nishiyama, Kiyomi Nakashima, Mitsuko Tsurusaki, Yoshinori Doi, Hiroshi Miyake, Noriko Kim, Jeong Hun Yu, Young Suk Matsumoto, Naomichi Mol Vis Research Article PURPOSE: Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract. METHODS: Two affected members from each family were pooled and processed for WES. The detected variants were confirmed with direct sequencing. RESULTS: WES readily identified a CRYAA mutation in family A and a CRYGC mutation in family B. The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. The novel mutation, c.124delT, in CRYGC may lead to a premature stop codon (p.C42Afs*60). CONCLUSIONS: This study clearly shows the efficacy of WES for rapid genetic diagnosis of congenital cataract with an unknown cause. WES will be the first choice for clinical services in the near future, providing useful information for genetic counseling and family planning. Molecular Vision 2013-02-18 /pmc/articles/PMC3580970/ /pubmed/23441109 Text en Copyright © 2013 Molecular Vision. http://creativecommons.org/licenses/by/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. |
spellingShingle | Research Article Kondo, Yukiko Saitsu, Hirotomo Miyamoto, Toshinobu Lee, Byung Joo Nishiyama, Kiyomi Nakashima, Mitsuko Tsurusaki, Yoshinori Doi, Hiroshi Miyake, Noriko Kim, Jeong Hun Yu, Young Suk Matsumoto, Naomichi Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
title | Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
title_full | Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
title_fullStr | Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
title_full_unstemmed | Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
title_short | Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
title_sort | pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580970/ https://www.ncbi.nlm.nih.gov/pubmed/23441109 |
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