Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy
Background: This study aimed to report the frequency of <i>KIF11</i>-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of <i>KIF1</i>1-associated retinopathy and compare <i>KIF11</i>-associated retinopathy to...
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MDPI AG
2022-04-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/4/713 |
| _version_ | 1797434658298789888 |
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| author | You Wang Zhaotian Zhang Li Huang Limei Sun Songshan Li Ting Zhang Xiaoyan Ding |
| author_facet | You Wang Zhaotian Zhang Li Huang Limei Sun Songshan Li Ting Zhang Xiaoyan Ding |
| author_sort | You Wang |
| collection | DOAJ |
| description | Background: This study aimed to report the frequency of <i>KIF11</i>-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of <i>KIF1</i>1-associated retinopathy and compare <i>KIF11</i>-associated retinopathy to FEVR with mutations in other genes. Methods: Genetic data collected from 696 FEVR families were reviewed. The ocular phenotypes in patients with <i>KIF11</i> mutations were analyzed and compared with those of FEVR patients with mutations in other genes (<i>FZD4</i>, <i>TSPAN12</i>, <i>LRP5</i>, <i>NDP</i> and <i>JAG1</i>). Results: In a cohort of 696 FEVR families, disease-causing <i>KIF11</i> mutations were identified in 3.6% of families (25/696). Among 25 <i>KIF11 mutations</i>, 80% (20/25) carried variants of loss of function and 48% (12/25) of variants were de novo. The phenotypes were variable. Compared with FEVR with disease-causing mutations in other genes, chorioretinal dysplasia was observed in 44.2% (31/70) of eyes with <i>KIF11</i>-associated retinopathy and in only 1.3% (1/70) of eyes with FEVR with mutations in other genes (<i>p</i> < 0.01). Increase and straightening of peripheral vessels (ISPV) was observed in 17.1% (12/70) of eyes with <i>KIF11</i>-associated retinopathy, and in 50% (39/78) of eyes with FEVR with mutations in other genes (<i>p</i> < 0.01). Conclusions: The frequency of the <i>KIF11</i> mutation in FEVR was 3.6% in our database. The manifestation of <i>KIF11</i>-associated retinopathy was variable and different from the phenotype in FEVR caused by other genes. Chorioretinal dysplasia, instead of retinal folds, was the dominant phenotype in <i>KIF11</i>-associated retinopathy. ISPV was rare in <i>KIF11</i>-associated retinopathy. Moreover, our study revealed that most pathogenic <i>KIF11</i> mutations were de novo. |
| first_indexed | 2024-03-09T10:35:29Z |
| format | Article |
| id | doaj.art-c526820000674fd8a670848b80fab459 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T10:35:29Z |
| publishDate | 2022-04-01 |
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| series | Genes |
| spelling | doaj.art-c526820000674fd8a670848b80fab4592023-12-01T20:57:43ZengMDPI AGGenes2073-44252022-04-0113471310.3390/genes13040713Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related RetinopathyYou Wang0Zhaotian Zhang1Li Huang2Limei Sun3Songshan Li4Ting Zhang5Xiaoyan Ding6State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Xianlie S Road, Guangzhou 510000, ChinaBackground: This study aimed to report the frequency of <i>KIF11</i>-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of <i>KIF1</i>1-associated retinopathy and compare <i>KIF11</i>-associated retinopathy to FEVR with mutations in other genes. Methods: Genetic data collected from 696 FEVR families were reviewed. The ocular phenotypes in patients with <i>KIF11</i> mutations were analyzed and compared with those of FEVR patients with mutations in other genes (<i>FZD4</i>, <i>TSPAN12</i>, <i>LRP5</i>, <i>NDP</i> and <i>JAG1</i>). Results: In a cohort of 696 FEVR families, disease-causing <i>KIF11</i> mutations were identified in 3.6% of families (25/696). Among 25 <i>KIF11 mutations</i>, 80% (20/25) carried variants of loss of function and 48% (12/25) of variants were de novo. The phenotypes were variable. Compared with FEVR with disease-causing mutations in other genes, chorioretinal dysplasia was observed in 44.2% (31/70) of eyes with <i>KIF11</i>-associated retinopathy and in only 1.3% (1/70) of eyes with FEVR with mutations in other genes (<i>p</i> < 0.01). Increase and straightening of peripheral vessels (ISPV) was observed in 17.1% (12/70) of eyes with <i>KIF11</i>-associated retinopathy, and in 50% (39/78) of eyes with FEVR with mutations in other genes (<i>p</i> < 0.01). Conclusions: The frequency of the <i>KIF11</i> mutation in FEVR was 3.6% in our database. The manifestation of <i>KIF11</i>-associated retinopathy was variable and different from the phenotype in FEVR caused by other genes. Chorioretinal dysplasia, instead of retinal folds, was the dominant phenotype in <i>KIF11</i>-associated retinopathy. ISPV was rare in <i>KIF11</i>-associated retinopathy. Moreover, our study revealed that most pathogenic <i>KIF11</i> mutations were de novo.https://www.mdpi.com/2073-4425/13/4/713familial exudative vitreoretinopathy<i>KIF11</i>chorioretinal dysplasiaincrease and straightening of peripheral vessels |
| spellingShingle | You Wang Zhaotian Zhang Li Huang Limei Sun Songshan Li Ting Zhang Xiaoyan Ding Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy Genes familial exudative vitreoretinopathy <i>KIF11</i> chorioretinal dysplasia increase and straightening of peripheral vessels |
| title | Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy |
| title_full | Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy |
| title_fullStr | Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy |
| title_full_unstemmed | Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy |
| title_short | Update on the Phenotypic and Genotypic Spectrum of <i>KIF11</i>-Related Retinopathy |
| title_sort | update on the phenotypic and genotypic spectrum of i kif11 i related retinopathy |
| topic | familial exudative vitreoretinopathy <i>KIF11</i> chorioretinal dysplasia increase and straightening of peripheral vessels |
| url | https://www.mdpi.com/2073-4425/13/4/713 |
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