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...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095528&type=printable |
| _version_ | 1826587096413896704 |
|---|---|
| author | Xiao Zhang Xianglian Ge Wei Shi Ping Huang Qingjie Min Minghan Li Xinping Yu Yaming Wu Guangyu Zhao Yi Tong Zi-Bing Jin Jia Qu Feng Gu |
| author_facet | Xiao Zhang Xianglian Ge Wei Shi Ping Huang Qingjie Min Minghan Li Xinping Yu Yaming Wu Guangyu Zhao Yi Tong Zi-Bing Jin Jia Qu Feng Gu |
| author_sort | Xiao Zhang |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T21:38:20Z |
| format | Article |
| id | doaj.art-4078250f7fa84d8d90137345628028ac |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2025-03-14T16:20:00Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-4078250f7fa84d8d90137345628028ac2025-02-22T05:33:46ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0194e9552810.1371/journal.pone.0095528Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.Xiao ZhangXianglian GeWei ShiPing HuangQingjie MinMinghan LiXinping YuYaming WuGuangyu ZhaoYi TongZi-Bing JinJia QuFeng GuStargardt 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095528&type=printable |
| spellingShingle | Xiao Zhang Xianglian Ge Wei Shi Ping Huang Qingjie Min Minghan Li Xinping Yu Yaming Wu Guangyu Zhao Yi Tong Zi-Bing Jin Jia Qu Feng Gu Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. PLoS ONE |
| 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 |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095528&type=printable |
| work_keys_str_mv | AT xiaozhang moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT xiangliange moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT weishi moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT pinghuang moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT qingjiemin moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT minghanli moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT xinpingyu moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT yamingwu moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT guangyuzhao moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT yitong moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT zibingjin moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT jiaqu moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing AT fenggu moleculardiagnosisofputativestargardtdiseasebycapturenextgenerationsequencing |