Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus
Abstract Background The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coheren...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-02-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-022-02301-5 |
| _version_ | 1819277016066686976 |
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| author | Tianwei Qian Qiaoyun Gong Hangqi Shen Caihua Li Gao Wang Xun Xu Isabelle Schrauwen Weijun Wang |
| author_facet | Tianwei Qian Qiaoyun Gong Hangqi Shen Caihua Li Gao Wang Xun Xu Isabelle Schrauwen Weijun Wang |
| author_sort | Tianwei Qian |
| collection | DOAJ |
| description | Abstract Background The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing. Results Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter. Conclusion We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus. |
| first_indexed | 2024-12-23T23:49:24Z |
| format | Article |
| id | doaj.art-59d47f852ff84373b94a0ff04f53055a |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-23T23:49:24Z |
| publishDate | 2022-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-59d47f852ff84373b94a0ff04f53055a2022-12-21T17:25:26ZengBMCBMC Ophthalmology1471-24152022-02-012211910.1186/s12886-022-02301-5Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatusTianwei Qian0Qiaoyun Gong1Hangqi Shen2Caihua Li3Gao Wang4Xun Xu5Isabelle Schrauwen6Weijun Wang7Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityGenesky Biotechnologies IncDepartment of Neurology, Columbia University Medical CenterDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityDepartment of Neurology, Columbia University Medical CenterDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityAbstract Background The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing. Results Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter. Conclusion We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.https://doi.org/10.1186/s12886-022-02301-5Fundus albipunctatusRDH5 geneFrameshift deletionMissense variants |
| spellingShingle | Tianwei Qian Qiaoyun Gong Hangqi Shen Caihua Li Gao Wang Xun Xu Isabelle Schrauwen Weijun Wang Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus BMC Ophthalmology Fundus albipunctatus RDH5 gene Frameshift deletion Missense variants |
| title | Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus |
| title_full | Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus |
| title_fullStr | Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus |
| title_full_unstemmed | Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus |
| title_short | Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus |
| title_sort | novel variants in the rdh5 gene in a chinese han family with fundus albipunctatus |
| topic | Fundus albipunctatus RDH5 gene Frameshift deletion Missense variants |
| url | https://doi.org/10.1186/s12886-022-02301-5 |
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