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Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

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机构: [1]Wenzhou Med Univ, Hosp Eye, Sch Ophthalmol & Optometry, State Key Lab Cultivat Base, Wenzhou, Zhejiang, Peoples R China; [2]Minist Hlth, Key Lab Vis Sci, Wenzhou, Zhejiang, Peoples R China; [3]Zhejiang Prov Key Lab Ophthalmol & Optometry, Wenzhou, Zhejiang, Peoples R China; [4]Capital Med Univ, Beijing Childrens Hosp, Dept Ophthalmol, Beijing, Peoples R China; [5]Wenzhou Med Univ, Dept Dev & Planning, Wenzhou, Zhejiang, Peoples R China; [6]Wenzhou Med Univ, Inst Genom Med, Wenzhou, Zhejiang, Peoples R China; [7]Wenzhou Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Wenzhou, Zhejiang, Peoples R China; [8]Fuzhou Southeastern Eye Hosp, Fuzhou, Peoples R China
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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.

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出版当年[2013]版:
大类 | 2 区 生物
小类 | 2 区 综合性期刊
最新[2025]版:
大类 | 3 区 综合性期刊
小类 | 3 区 综合性期刊
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出版当年[2012]版:
Q1 MULTIDISCIPLINARY SCIENCES
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Q2 MULTIDISCIPLINARY SCIENCES

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第一作者机构: [1]Wenzhou Med Univ, Hosp Eye, Sch Ophthalmol & Optometry, State Key Lab Cultivat Base, Wenzhou, Zhejiang, Peoples R China; [2]Minist Hlth, Key Lab Vis Sci, Wenzhou, Zhejiang, Peoples R China; [3]Zhejiang Prov Key Lab Ophthalmol & Optometry, Wenzhou, Zhejiang, Peoples R China;
通讯作者:
通讯机构: [1]Wenzhou Med Univ, Hosp Eye, Sch Ophthalmol & Optometry, State Key Lab Cultivat Base, Wenzhou, Zhejiang, Peoples R China; [2]Minist Hlth, Key Lab Vis Sci, Wenzhou, Zhejiang, Peoples R China; [3]Zhejiang Prov Key Lab Ophthalmol & Optometry, Wenzhou, Zhejiang, Peoples R China;
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