Ocular phenotype and genetical analysis in patients with retinopathy of prematurity
Abstract Background Retinopathy of prematurity (ROP) is a multifactorial retinal disease, involving both environmental and genetic factors; The purpose of this study is to evaluate the clinical presentations and genetic variants in Chinese patients with ROP. Methods A total of 36 patients diagnosed...
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| Format: | Article |
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BMC
2022-01-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-022-02252-x |
| _version_ | 1819006765995393024 |
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| author | Tianchang Tao Xianfen Meng Ningda Xu Jiarui Li Yong Cheng Yi Chen Lvzhen Huang |
| author_facet | Tianchang Tao Xianfen Meng Ningda Xu Jiarui Li Yong Cheng Yi Chen Lvzhen Huang |
| author_sort | Tianchang Tao |
| collection | DOAJ |
| description | Abstract Background Retinopathy of prematurity (ROP) is a multifactorial retinal disease, involving both environmental and genetic factors; The purpose of this study is to evaluate the clinical presentations and genetic variants in Chinese patients with ROP. Methods A total of 36 patients diagnosed with ROP were enrolled in this study, their medical and ophthalmic histories were obtained, and comprehensive clinical examinations were performed. Genomic DNA was isolated from peripheral blood of ROP patients, polymerase chain reaction and direct sequencing of the associated pathogenic genes (FZD4, TSPAN12, and NDP) were performed. Results All patients exhibited the clinical manifestations of ROP. No mutations were detected in the TSPAN12 and NDP genes in all patients; Interestingly, three novel missense mutations were identified in the FZD4 gene (p.A2P, p.L79M, and p.Y378C) in four patients, for a detection rate of 11.1% (4/36). Conclusions This study expands the genotypic spectrum of FZD4 gene in ROP patients, and our findings underscore the importance of obtaining molecular analyses and comprehensive health screening for this retinal disease. |
| first_indexed | 2024-12-21T00:13:54Z |
| format | Article |
| id | doaj.art-a0fba6a88a7b43048c732874b93c7e47 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-21T00:13:54Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-a0fba6a88a7b43048c732874b93c7e472022-12-21T19:22:17ZengBMCBMC Ophthalmology1471-24152022-01-012211810.1186/s12886-022-02252-xOcular phenotype and genetical analysis in patients with retinopathy of prematurityTianchang Tao0Xianfen Meng1Ningda Xu2Jiarui Li3Yong Cheng4Yi Chen5Lvzhen Huang6Department of Ophthalmology, Peking University People’s Hospital, Eye Diseases and Optometry InstituteDepartment of Ophthalmology, Beijing Huaxin Hospital, The First Hospital of Tsinghua UniversityDepartment of Ophthalmology, Peking University People’s Hospital, Eye Diseases and Optometry InstituteDepartment of Ophthalmology, Peking University People’s Hospital, Eye Diseases and Optometry InstituteDepartment of Ophthalmology, Peking University People’s Hospital, Eye Diseases and Optometry InstituteDepartment of Ophthalmology, China-Japan Friendship HospitalDepartment of Ophthalmology, Peking University People’s Hospital, Eye Diseases and Optometry InstituteAbstract Background Retinopathy of prematurity (ROP) is a multifactorial retinal disease, involving both environmental and genetic factors; The purpose of this study is to evaluate the clinical presentations and genetic variants in Chinese patients with ROP. Methods A total of 36 patients diagnosed with ROP were enrolled in this study, their medical and ophthalmic histories were obtained, and comprehensive clinical examinations were performed. Genomic DNA was isolated from peripheral blood of ROP patients, polymerase chain reaction and direct sequencing of the associated pathogenic genes (FZD4, TSPAN12, and NDP) were performed. Results All patients exhibited the clinical manifestations of ROP. No mutations were detected in the TSPAN12 and NDP genes in all patients; Interestingly, three novel missense mutations were identified in the FZD4 gene (p.A2P, p.L79M, and p.Y378C) in four patients, for a detection rate of 11.1% (4/36). Conclusions This study expands the genotypic spectrum of FZD4 gene in ROP patients, and our findings underscore the importance of obtaining molecular analyses and comprehensive health screening for this retinal disease.https://doi.org/10.1186/s12886-022-02252-xRetinopathy of prematurityFrizzled-4Wnt signaling pathwayRetinal vascular development |
| spellingShingle | Tianchang Tao Xianfen Meng Ningda Xu Jiarui Li Yong Cheng Yi Chen Lvzhen Huang Ocular phenotype and genetical analysis in patients with retinopathy of prematurity BMC Ophthalmology Retinopathy of prematurity Frizzled-4 Wnt signaling pathway Retinal vascular development |
| title | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity |
| title_full | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity |
| title_fullStr | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity |
| title_full_unstemmed | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity |
| title_short | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity |
| title_sort | ocular phenotype and genetical analysis in patients with retinopathy of prematurity |
| topic | Retinopathy of prematurity Frizzled-4 Wnt signaling pathway Retinal vascular development |
| url | https://doi.org/10.1186/s12886-022-02252-x |
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