Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations
Abstract Background Panel‐based targeted exome sequencing was applied to identify the pathogenic variants and genetic characteristics of retinitis pigmentosa (RP) in two Chinese families, and to gain a deeper understanding of the relationship between clinical manifestations and genotypes. Methods A...
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| Format: | Article |
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Wiley
2020-03-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1117 |
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| author | Yan Sun Jian‐kang Li Wei He Zhuo‐shi Wang Jin‐yue Bai Ling Xu Bo Xing Jian‐guo Zhang Lusheng Wang Wei Li Fang Chen |
| author_facet | Yan Sun Jian‐kang Li Wei He Zhuo‐shi Wang Jin‐yue Bai Ling Xu Bo Xing Jian‐guo Zhang Lusheng Wang Wei Li Fang Chen |
| author_sort | Yan Sun |
| collection | DOAJ |
| description | Abstract Background Panel‐based targeted exome sequencing was applied to identify the pathogenic variants and genetic characteristics of retinitis pigmentosa (RP) in two Chinese families, and to gain a deeper understanding of the relationship between clinical manifestations and genotypes. Methods A total of 17 subjects, comprising two probands (total patients: four subjects) and their family member, were recruited in this study. All subjects underwent comprehensive ophthalmic examinations and clinical evaluations, and the complete history and medical records were collected according to the standard procedures. All participants were screened using the multigene panel test (Target_Eye_792_V2 chip), and Sanger sequencing was used to confirm the candidate variants. Results Among these two families, a total of three novel mutations in the EYS gene were identified in patients, including a homozygous frameshift mutation c.9252_9253insT detected in two patients in one family, and the compound heterozygous splicesite mutation c.5644+2T>C and frameshift mutation c.1920_1923delTGAG detected in two patients in the another family. All patients in both families had early onset of night blindness and poor visual acuity, and with typical posterior capsule opacification. The mutation co‐segregated within all recruited individuals. In addition, one patient with compound heterozygous mutations was found to have typical blue‐blindness symptoms and detected a previously reported disease‐causing mutation c.235G>A in OPN1SW gene, which caused blue blindness manifestations and was first discovered in patient combined with RP causative genes. Conclusions Panel‐based targeted exome sequencing was used to identify three novel variants of RP causative gene, and we also detected a known pathogenic variants of blue‐blindness causative genes in two patients. Our finding will provide a powerful basis for genetic counseling and enhance our current understanding of the genetics factors for RP families. |
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| language | English |
| last_indexed | 2024-03-07T23:17:14Z |
| publishDate | 2020-03-01 |
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| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-b2c81ff9eccc4672b79752388b6075c52024-02-21T10:43:38ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-03-0183n/an/a10.1002/mgg3.1117Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutationsYan Sun0Jian‐kang Li1Wei He2Zhuo‐shi Wang3Jin‐yue Bai4Ling Xu5Bo Xing6Jian‐guo Zhang7Lusheng Wang8Wei Li9Fang Chen10Shenyang He Eye Specialist Hospital Shenyang ChinaDepartment of Computer Science City University of Hong Kong Kowloon Hong KongShenyang He Eye Specialist Hospital Shenyang ChinaShenyang He Eye Specialist Hospital Shenyang ChinaSchool of Basic Medicine Qingdao University Qingdao ChinaShenyang He Eye Specialist Hospital Shenyang ChinaSchool of Basic Medicine Qingdao University Qingdao ChinaBGI‐Shenzhen Shenzhen ChinaDepartment of Computer Science City University of Hong Kong Kowloon Hong KongHe University Shenyang ChinaBGI‐Shenzhen Shenzhen ChinaAbstract Background Panel‐based targeted exome sequencing was applied to identify the pathogenic variants and genetic characteristics of retinitis pigmentosa (RP) in two Chinese families, and to gain a deeper understanding of the relationship between clinical manifestations and genotypes. Methods A total of 17 subjects, comprising two probands (total patients: four subjects) and their family member, were recruited in this study. All subjects underwent comprehensive ophthalmic examinations and clinical evaluations, and the complete history and medical records were collected according to the standard procedures. All participants were screened using the multigene panel test (Target_Eye_792_V2 chip), and Sanger sequencing was used to confirm the candidate variants. Results Among these two families, a total of three novel mutations in the EYS gene were identified in patients, including a homozygous frameshift mutation c.9252_9253insT detected in two patients in one family, and the compound heterozygous splicesite mutation c.5644+2T>C and frameshift mutation c.1920_1923delTGAG detected in two patients in the another family. All patients in both families had early onset of night blindness and poor visual acuity, and with typical posterior capsule opacification. The mutation co‐segregated within all recruited individuals. In addition, one patient with compound heterozygous mutations was found to have typical blue‐blindness symptoms and detected a previously reported disease‐causing mutation c.235G>A in OPN1SW gene, which caused blue blindness manifestations and was first discovered in patient combined with RP causative genes. Conclusions Panel‐based targeted exome sequencing was used to identify three novel variants of RP causative gene, and we also detected a known pathogenic variants of blue‐blindness causative genes in two patients. Our finding will provide a powerful basis for genetic counseling and enhance our current understanding of the genetics factors for RP families.https://doi.org/10.1002/mgg3.1117blue blindnessmutation spectrumpanel‐based targeted exome sequencingretinitis pigmentosa |
| spellingShingle | Yan Sun Jian‐kang Li Wei He Zhuo‐shi Wang Jin‐yue Bai Ling Xu Bo Xing Jian‐guo Zhang Lusheng Wang Wei Li Fang Chen Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations Molecular Genetics & Genomic Medicine blue blindness mutation spectrum panel‐based targeted exome sequencing retinitis pigmentosa |
| title | Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations |
| title_full | Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations |
| title_fullStr | Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations |
| title_full_unstemmed | Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations |
| title_short | Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations |
| title_sort | genetic and clinical analysis in chinese patients with retinitis pigmentosa caused by eys mutations |
| topic | blue blindness mutation spectrum panel‐based targeted exome sequencing retinitis pigmentosa |
| url | https://doi.org/10.1002/mgg3.1117 |
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