A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy
Abstract Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may be controlled by low protein diets....
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| Format: | Article |
| Language: | English |
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Knowledge E
2024-03-01
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| Series: | Journal of Ophthalmic & Vision Research |
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| Online Access: | https://doi.org/10.18502/jovr.v19i1.15446 |
| _version_ | 1827299156566212608 |
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| author | Samira Molaei Ramshe Safoura Zardadi Elham Alehabib Ramin Nourinia Javad Jamshidi Mohsen Soosanabadi Hossein Darvish |
| author_facet | Samira Molaei Ramshe Safoura Zardadi Elham Alehabib Ramin Nourinia Javad Jamshidi Mohsen Soosanabadi Hossein Darvish |
| author_sort | Samira Molaei Ramshe |
| collection | DOAJ |
| description | Abstract Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may be controlled by low protein diets. Pyridoxine (vitamin B6) supplementation may also be effective, however, most patients appear to be nonresponsive to this modality of treatment. Case Report: Here, we report a characterized case of a vitamin B6-responsive GACR who had a splicing mutation in the OAT gene. The GACR diagnosis was confirmed through the clinical features, imaging, biochemical findings, and whole-exome sequencing (WES) results. WES data revealed the splicing mutation in intron 4 of the OAT gene (NM_001322967: c.425-1G > A). Conclusion: Our knowledge about the diagnosis and treatment of GACR can be improved by identifying novel mutations in the OAT gene and accurate follow-up of the patients to determine how they respond to treatment. |
| first_indexed | 2024-04-24T15:28:08Z |
| format | Article |
| id | doaj.art-be511fcce9894a3cba160f58b3d04c22 |
| institution | Directory Open Access Journal |
| issn | 2008-2010 2008-322X |
| language | English |
| last_indexed | 2024-04-24T15:28:08Z |
| publishDate | 2024-03-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Journal of Ophthalmic & Vision Research |
| spelling | doaj.art-be511fcce9894a3cba160f58b3d04c222024-04-02T05:30:46ZengKnowledge EJournal of Ophthalmic & Vision Research2008-20102008-322X2024-03-0119111813210.18502/jovr.v19i1.15446jovr.v19i1.15446A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate AtrophySamira Molaei Ramshe0Safoura Zardadi1Elham Alehabib2Ramin Nourinia3Javad Jamshidi4Mohsen Soosanabadi5Hossein Darvish6 Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA Department of Biology, School of Basic Sciences, Science and Research Branch, Islamic Azad University, Tehran, Iran Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, IranAbstract Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may be controlled by low protein diets. Pyridoxine (vitamin B6) supplementation may also be effective, however, most patients appear to be nonresponsive to this modality of treatment. Case Report: Here, we report a characterized case of a vitamin B6-responsive GACR who had a splicing mutation in the OAT gene. The GACR diagnosis was confirmed through the clinical features, imaging, biochemical findings, and whole-exome sequencing (WES) results. WES data revealed the splicing mutation in intron 4 of the OAT gene (NM_001322967: c.425-1G > A). Conclusion: Our knowledge about the diagnosis and treatment of GACR can be improved by identifying novel mutations in the OAT gene and accurate follow-up of the patients to determine how they respond to treatment.https://doi.org/10.18502/jovr.v19i1.15446gyrate atrophy mutation ornithine aminotransferase vitamin b6 |
| spellingShingle | Samira Molaei Ramshe Safoura Zardadi Elham Alehabib Ramin Nourinia Javad Jamshidi Mohsen Soosanabadi Hossein Darvish A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy Journal of Ophthalmic & Vision Research gyrate atrophy mutation ornithine aminotransferase vitamin b6 |
| title | A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy |
| title_full | A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy |
| title_fullStr | A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy |
| title_full_unstemmed | A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy |
| title_short | A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy |
| title_sort | novel ornithine aminotransferase splice site mutation causes vitamin b6 responsive gyrate atrophy |
| topic | gyrate atrophy mutation ornithine aminotransferase vitamin b6 |
| url | https://doi.org/10.18502/jovr.v19i1.15446 |
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