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Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD fa...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999032/ https://www.ncbi.nlm.nih.gov/pubmed/24763286 http://dx.doi.org/10.1371/journal.pone.0095528 |
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author | Zhang, Xiao Ge, Xianglian Shi, Wei Huang, Ping Min, Qingjie Li, Minghan Yu, Xinping Wu, Yaming Zhao, Guangyu Tong, Yi Jin, Zi-Bing Qu, Jia Gu, Feng |
author_facet | Zhang, Xiao Ge, Xianglian Shi, Wei Huang, Ping Min, Qingjie Li, Minghan Yu, Xinping Wu, Yaming Zhao, Guangyu Tong, Yi Jin, Zi-Bing Qu, Jia Gu, Feng |
author_sort | Zhang, Xiao |
collection | PubMed |
description | Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis. |
format | Online Article Text |
id | pubmed-3999032 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-39990322014-04-29 Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing Zhang, Xiao Ge, Xianglian Shi, Wei Huang, Ping Min, Qingjie Li, Minghan Yu, Xinping Wu, Yaming Zhao, Guangyu Tong, Yi Jin, Zi-Bing Qu, Jia Gu, Feng PLoS One Research Article Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis. Public Library of Science 2014-04-24 /pmc/articles/PMC3999032/ /pubmed/24763286 http://dx.doi.org/10.1371/journal.pone.0095528 Text en © 2014 Zhang et al http://creativecommons.org/licenses/by/4.0/ 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 author and source are properly credited. |
spellingShingle | Research Article Zhang, Xiao Ge, Xianglian Shi, Wei Huang, Ping Min, Qingjie Li, Minghan Yu, Xinping Wu, Yaming Zhao, Guangyu Tong, Yi Jin, Zi-Bing Qu, Jia Gu, Feng Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing |
title | Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing |
title_full | Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing |
title_fullStr | Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing |
title_full_unstemmed | Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing |
title_short | Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing |
title_sort | molecular diagnosis of putative stargardt disease by capture next generation sequencing |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999032/ https://www.ncbi.nlm.nih.gov/pubmed/24763286 http://dx.doi.org/10.1371/journal.pone.0095528 |
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