Version 1
: Received: 29 April 2024 / Approved: 30 April 2024 / Online: 30 April 2024 (07:28:31 CEST)
How to cite:
Ju, Y.; Li, X.; Gao, F.; Chang, Q.; Zong, Y.; Huang, X. Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of OAT. Preprints2024, 2024041957. https://doi.org/10.20944/preprints202404.1957.v1
Ju, Y.; Li, X.; Gao, F.; Chang, Q.; Zong, Y.; Huang, X. Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of OAT. Preprints 2024, 2024041957. https://doi.org/10.20944/preprints202404.1957.v1
Ju, Y.; Li, X.; Gao, F.; Chang, Q.; Zong, Y.; Huang, X. Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of OAT. Preprints2024, 2024041957. https://doi.org/10.20944/preprints202404.1957.v1
APA Style
Ju, Y., Li, X., Gao, F., Chang, Q., Zong, Y., & Huang, X. (2024). Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>. Preprints. https://doi.org/10.20944/preprints202404.1957.v1
Chicago/Turabian Style
Ju, Y., Yuan Zong and Xin Huang. 2024 "Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>" Preprints. https://doi.org/10.20944/preprints202404.1957.v1
Abstract
This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with vitamin B6 supplementation was implemented; clinical assessments were repeated every 3 months during follow-up. Relative OAT mRNA expression was determined using real-time quantitative polymerase chain reaction. The 19-year-old compound heterozygous daughter (OAT: c.1186C>T; c.748C>T), had bilateral high myopia, posterior staphyloma, chorioretinal atrophy, macular abnormalities, and elevated hematologic ornithine. The 54-year-old heterozygous mother (OAT: c.1186C>T), presented with bilateral severe myopia, asymmetric posterior staphyloma, retina and choroidal capillary layer atrophy, retinal pigment epithelium abnormalities, and mildly elevated hematologic ornithine. Compared to normal individuals, the daughter and mother had 29% and 46% relative OAT mRNA expression, respectively (P<0.001). We believe that this is the first report of a carrier of one OAT variant allele with mild phenotypes, suggesting that family members should be aware of the possible involvement of autosomal recessive conditions. Additional data suggests nonsense mediated decay-initiated mRNA degradation may cause GACR.
Keywords
gyrate atrophy of the choroid and retina (GACR); OAT gene; carrier; allele; autosomal recessive
Subject
Medicine and Pharmacology, Ophthalmology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
