ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa |
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| Authors: | Mingchu Xu Aiden Eblimit Jing Wang Jianli Li Feng Wang Li Zhao Xia Wang Ningna Xiao Yumei Li Lee‐Jun C. Wong Richard A. Lewis Rui Chen |
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| Affiliation: | 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas;3. Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas;4. Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas;5. The Verna and Marrs Mclean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas;6. Program in Developmental Biology, Baylor College of Medicine, Houston, Texas |
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| Abstract: | Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disorder. Despite the numerous genes associated with RP already identified, the genetic basis remains unknown in a substantial number of patients and families. In this study, we performed whole‐exome sequencing to investigate the molecular basis of a syndromic RP case that cannot be solved by mutations in known disease‐causing genes. After applying a series of variant filtering strategies, we identified an apparently homozygous frameshift mutation, c.31delC (p.Q11Rfs*24) in the ADIPOR1 gene. The reported phenotypes of Adipor1‐null mice contain retinal dystrophy, obesity, and behavioral abnormalities, which highly mimic those in the syndromic RP patient. We further confirmed ADIPOR1 retina expression by immunohistochemistry. Our results established ADIPOR1 as a novel disease‐causing gene for syndromic RP and highlight the importance of fatty acid transport in the retina. |
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| Keywords: | next‐generation sequencing ADIPOR1 retina obesity fatty acid |
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