The causal mutation in ARR3 gene for high myopia and progressive color vision defect
Abstract The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< ...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-06-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-36141-0 |
| _version_ | 1797811524084957184 |
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| author | Lei Gu Peikuan Cong Qingyao Ning Bo Jiang Jianyong Wang Hongguang Cui |
| author_facet | Lei Gu Peikuan Cong Qingyao Ning Bo Jiang Jianyong Wang Hongguang Cui |
| author_sort | Lei Gu |
| collection | DOAJ |
| description | Abstract The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< − 6D). Here, we reveal a new mutation (c.228T>A, p.Tyr76*) in ARR3 gene that can cause early-onset high myopia (eoHM) limited to female carriers. Protan/deutan color vision defects were also found in family members, affecting both genders. Using ten years of clinical follow-up data, we identified gradually worsening cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis that higher visual contrast due to the mosaic of mutated ARR3 expression in cones contributes to the development of myopia in female carriers. |
| first_indexed | 2024-03-13T07:25:00Z |
| format | Article |
| id | doaj.art-15e1f1d1fe5545ccab069e2cc11a68c8 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-13T07:25:00Z |
| publishDate | 2023-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-15e1f1d1fe5545ccab069e2cc11a68c82023-06-04T11:26:25ZengNature PortfolioScientific Reports2045-23222023-06-011311910.1038/s41598-023-36141-0The causal mutation in ARR3 gene for high myopia and progressive color vision defectLei Gu0Peikuan Cong1Qingyao Ning2Bo Jiang3Jianyong Wang4Hongguang Cui5The First Affiliated Hospital, Zhejiang University School of MedicineKey Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake UniversityThe First Affiliated Hospital, Zhejiang University School of MedicineThe First Affiliated Hospital, Zhejiang University School of MedicineThe First Affiliated Hospital, Zhejiang University School of MedicineThe First Affiliated Hospital, Zhejiang University School of MedicineAbstract The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< − 6D). Here, we reveal a new mutation (c.228T>A, p.Tyr76*) in ARR3 gene that can cause early-onset high myopia (eoHM) limited to female carriers. Protan/deutan color vision defects were also found in family members, affecting both genders. Using ten years of clinical follow-up data, we identified gradually worsening cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis that higher visual contrast due to the mosaic of mutated ARR3 expression in cones contributes to the development of myopia in female carriers.https://doi.org/10.1038/s41598-023-36141-0 |
| spellingShingle | Lei Gu Peikuan Cong Qingyao Ning Bo Jiang Jianyong Wang Hongguang Cui The causal mutation in ARR3 gene for high myopia and progressive color vision defect Scientific Reports |
| title | The causal mutation in ARR3 gene for high myopia and progressive color vision defect |
| title_full | The causal mutation in ARR3 gene for high myopia and progressive color vision defect |
| title_fullStr | The causal mutation in ARR3 gene for high myopia and progressive color vision defect |
| title_full_unstemmed | The causal mutation in ARR3 gene for high myopia and progressive color vision defect |
| title_short | The causal mutation in ARR3 gene for high myopia and progressive color vision defect |
| title_sort | causal mutation in arr3 gene for high myopia and progressive color vision defect |
| url | https://doi.org/10.1038/s41598-023-36141-0 |
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