The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing
Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population.Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent d...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-11-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.01217/full |
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| author | Dan-Dan Wang Dan-Dan Wang Dan-Dan Wang Fang-Yuan Hu Fang-Yuan Hu Fang-Yuan Hu Feng-Juan Gao Feng-Juan Gao Feng-Juan Gao Sheng-Hai Zhang Sheng-Hai Zhang Sheng-Hai Zhang Ping Xu Ping Xu Ping Xu Guo-Hong Tian Guo-Hong Tian Guo-Hong Tian Ji-Hong Wu Ji-Hong Wu Ji-Hong Wu |
| author_facet | Dan-Dan Wang Dan-Dan Wang Dan-Dan Wang Fang-Yuan Hu Fang-Yuan Hu Fang-Yuan Hu Feng-Juan Gao Feng-Juan Gao Feng-Juan Gao Sheng-Hai Zhang Sheng-Hai Zhang Sheng-Hai Zhang Ping Xu Ping Xu Ping Xu Guo-Hong Tian Guo-Hong Tian Guo-Hong Tian Ji-Hong Wu Ji-Hong Wu Ji-Hong Wu |
| author_sort | Dan-Dan Wang |
| collection | DOAJ |
| description | Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population.Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent detailed clinical evaluations. Furthermore, Sanger sequencing and cosegregation analyses were performed within families.Results: Five patients with WS1 were identified in four unrelated families, and their clinical features were reviewed in detail. Seven variants of WFS1 were detected, including three reported variants (p.G674R, p.Tyr508Cysfs*34, and p.G702D) and four novel variants (p.W540G, p.K634*, p.F770C, and p.Q584P). Furthermore, the variant p.G674R was recurrent.Conclusion: Considering that WS1 is a rare progressive neurodegenerative disease, early diagnosis is beneficial to the systematic evaluation, monitoring and management of complications to improve patient quality of life and delay the progression of the disease. In the future, precise diagnosis on the basis of clinical manifestation and genetic testing will become the gold standard for the diagnosis of hereditary eye diseases and syndromes. Finally, our results further increase the spectrum of WFS1 mutations by adding four novel variants to the limited data available in the Chinese population. |
| first_indexed | 2024-12-20T04:52:25Z |
| format | Article |
| id | doaj.art-cabb32470ca2431893493bc5155cb9d9 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-20T04:52:25Z |
| publishDate | 2019-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-cabb32470ca2431893493bc5155cb9d92022-12-21T19:52:49ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-11-011010.3389/fgene.2019.01217451548The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation SequencingDan-Dan Wang0Dan-Dan Wang1Dan-Dan Wang2Fang-Yuan Hu3Fang-Yuan Hu4Fang-Yuan Hu5Feng-Juan Gao6Feng-Juan Gao7Feng-Juan Gao8Sheng-Hai Zhang9Sheng-Hai Zhang10Sheng-Hai Zhang11Ping Xu12Ping Xu13Ping Xu14Guo-Hong Tian15Guo-Hong Tian16Guo-Hong Tian17Ji-Hong Wu18Ji-Hong Wu19Ji-Hong Wu20Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, ChinaShanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, ChinaKey Laboratory of Myopia, Ministry of Health, Shanghai, ChinaPurpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population.Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent detailed clinical evaluations. Furthermore, Sanger sequencing and cosegregation analyses were performed within families.Results: Five patients with WS1 were identified in four unrelated families, and their clinical features were reviewed in detail. Seven variants of WFS1 were detected, including three reported variants (p.G674R, p.Tyr508Cysfs*34, and p.G702D) and four novel variants (p.W540G, p.K634*, p.F770C, and p.Q584P). Furthermore, the variant p.G674R was recurrent.Conclusion: Considering that WS1 is a rare progressive neurodegenerative disease, early diagnosis is beneficial to the systematic evaluation, monitoring and management of complications to improve patient quality of life and delay the progression of the disease. In the future, precise diagnosis on the basis of clinical manifestation and genetic testing will become the gold standard for the diagnosis of hereditary eye diseases and syndromes. Finally, our results further increase the spectrum of WFS1 mutations by adding four novel variants to the limited data available in the Chinese population.https://www.frontiersin.org/article/10.3389/fgene.2019.01217/fullwolfram syndromeWFS1optic atrophydiabetes mellitusnext-generation sequencingprecise diagnosis |
| spellingShingle | Dan-Dan Wang Dan-Dan Wang Dan-Dan Wang Fang-Yuan Hu Fang-Yuan Hu Fang-Yuan Hu Feng-Juan Gao Feng-Juan Gao Feng-Juan Gao Sheng-Hai Zhang Sheng-Hai Zhang Sheng-Hai Zhang Ping Xu Ping Xu Ping Xu Guo-Hong Tian Guo-Hong Tian Guo-Hong Tian Ji-Hong Wu Ji-Hong Wu Ji-Hong Wu The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing Frontiers in Genetics wolfram syndrome WFS1 optic atrophy diabetes mellitus next-generation sequencing precise diagnosis |
| title | The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing |
| title_full | The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing |
| title_fullStr | The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing |
| title_full_unstemmed | The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing |
| title_short | The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing |
| title_sort | precise diagnosis of wolfram syndrome type 1 based on next generation sequencing |
| topic | wolfram syndrome WFS1 optic atrophy diabetes mellitus next-generation sequencing precise diagnosis |
| url | https://www.frontiersin.org/article/10.3389/fgene.2019.01217/full |
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