A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis
Purpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination.Methods: Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, includi...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.993157/full |
| _version_ | 1798001474122285056 |
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| author | Xiao-Fang Wang Fei-Fei Chen Xin Zhou Xin-Xuan Cheng Zheng-Gao Xie |
| author_facet | Xiao-Fang Wang Fei-Fei Chen Xin Zhou Xin-Xuan Cheng Zheng-Gao Xie |
| author_sort | Xiao-Fang Wang |
| collection | DOAJ |
| description | Purpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination.Methods: Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, including two twin siblings. All subjects received a full eye examination. Whole-exome sequencing (WES) and Sanger sequencing were performed on two twin probands and all participants, respectively.Results: A novel splice site mutation RS1.c.53-1G>A was identified in a Chinese congenital retinoschisis family. The mean onset age was 16.7 ± 2.4 years old. The average BCVA in patients was 0.37 ± 0.05. A typical spoke-wheel pattern was observed in all affected eyes. OCT examination results showed fovea schisis and schisis cavities were located in the inner nuclear layer in 100% eyes (6/6). ERG b/a ratio was decreased markedly, but was still more than 1 in the four eyes that were available.Conclusion: The present study discovered a new pathogenic splice cite variant of RS1 in congenital retinoschisis, which expands the mutational spectrum. In contrast to previous research, the phenotype of patients with the same mutation within one family was highly similar. Early molecular testing is crucial for early diagnosis, clinical management, and genetic counseling of patients with congenital retinoschisis. |
| first_indexed | 2024-04-11T11:36:51Z |
| format | Article |
| id | doaj.art-7bba7ab069704e34beee3129ade22268 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T11:36:51Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-7bba7ab069704e34beee3129ade222682022-12-22T04:25:56ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.993157993157A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisisXiao-Fang Wang0Fei-Fei Chen1Xin Zhou2Xin-Xuan Cheng3Zheng-Gao Xie4Department of Ophthalmology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, ChinaDepartment of Ophthalmology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, ChinaDepartment of Ophthalmology, The First People’s Hospital of Kunshan Affiliated with Jiangsu University, Suzhou, ChinaDepartment of Ophthalmology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, ChinaDepartment of Ophthalmology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, ChinaPurpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination.Methods: Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, including two twin siblings. All subjects received a full eye examination. Whole-exome sequencing (WES) and Sanger sequencing were performed on two twin probands and all participants, respectively.Results: A novel splice site mutation RS1.c.53-1G>A was identified in a Chinese congenital retinoschisis family. The mean onset age was 16.7 ± 2.4 years old. The average BCVA in patients was 0.37 ± 0.05. A typical spoke-wheel pattern was observed in all affected eyes. OCT examination results showed fovea schisis and schisis cavities were located in the inner nuclear layer in 100% eyes (6/6). ERG b/a ratio was decreased markedly, but was still more than 1 in the four eyes that were available.Conclusion: The present study discovered a new pathogenic splice cite variant of RS1 in congenital retinoschisis, which expands the mutational spectrum. In contrast to previous research, the phenotype of patients with the same mutation within one family was highly similar. Early molecular testing is crucial for early diagnosis, clinical management, and genetic counseling of patients with congenital retinoschisis.https://www.frontiersin.org/articles/10.3389/fgene.2022.993157/fullcongenital retinoschisisgene mutationRS1sequencinggenotype–phenotype |
| spellingShingle | Xiao-Fang Wang Fei-Fei Chen Xin Zhou Xin-Xuan Cheng Zheng-Gao Xie A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis Frontiers in Genetics congenital retinoschisis gene mutation RS1 sequencing genotype–phenotype |
| title | A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis |
| title_full | A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis |
| title_fullStr | A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis |
| title_full_unstemmed | A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis |
| title_short | A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis |
| title_sort | novel mutation in rs1 and clinical manifestations in a chinese twin family with congenital retinoschisis |
| topic | congenital retinoschisis gene mutation RS1 sequencing genotype–phenotype |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.993157/full |
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