The ornithine aminotransferase gene in gyrate, atrophy of the retina: Analysis of expression and gross structure of this gene in cultured fibroblasts

1989 ◽  
Vol 25 (10) ◽  
pp. 971-976 ◽  
Author(s):  
James D. Shull ◽  
Henry C. Pitot
Keyword(s):  
Ornithine Aminotransferase ◽  
Gyrate Atrophy ◽  
Cultured Fibroblasts ◽  
Ornithine Aminotransferase Gene

scholarly journals A deletion in the ornithine aminotransferase gene in gyrate atrophy.

1992 ◽  
Vol 267 (18) ◽  
pp. 12950-12954
Author(s):  
Y Akaki ◽  
Y Hotta ◽  
Y Mashima ◽  
A Murakami ◽  
N.G. Kennaway ◽  
...  
Keyword(s):  
Ornithine Aminotransferase ◽  
Gyrate Atrophy ◽  
Ornithine Aminotransferase Gene

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia

2020 ◽  
pp. 112067212092173
Author(s):  
Hossein Jalali ◽  
Mojtaba Najafi ◽  
Atefeh Khoshaeen ◽  
Mohammad Reza Mahdavi ◽  
Mahan Mahdavi
Keyword(s):  
Liquid Chromatography ◽  
High Performance ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Night Vision ◽  
Ornithine Aminotransferase ◽  
Gyrate Atrophy ◽  
Blurred Vision ◽  
High Level ◽  
Ornithine Aminotransferase Gene

Background: Gyrate atrophy is a rare autosomal recessive inherited genetic disease. Progressive deterioration of peripheral night vision and blindness are the foremost clinical manifestations of the disease caused by mutations of ornithine aminotransferase gene. Case: The presented case was an 18-year-old male referred for a progressive reduction of visual acuity, which started when the subject was 7 years old, blurred vision, and hypotonic muscles. Observations: The findings by liquid chromatography with tandem mass spectrometry and high-performance liquid chromatography methods exhibited a high level of ornithine: 248 μmol/L (reference range: 44–206 μmol/L) and 818 μmol/L (reference: 25–123 μmol/L), respectively. After genetic counseling and conducting further investigation, a novel mutation (c.425-1G>A) in ornithine aminotransferase gene was recognized through whole exome sequencing and the mutation was verified using Sanger sequencing method, which is associated with gyrate atrophy phenotype. Conclusion: The exact mechanism of chorioretinal atrophy in hyperornithinemia is not known but the increased ornithine level is the clinical manifestation of gyrate atrophy of choroid and retina, muscle weakness, moderate mental retardation, and low cerebral creatine. Pathogenic variant in the ornithine aminotransferase gene associated with gyrate atrophy, may be beneficial as a biomarker to initial diagnosis and treatment of gyrate atrophy disease.

scholarly journals Point Mutation Affecting Processing of the Ornithine Aminotransferase Precursor Protein in Gyrate Atrophy

1989 ◽  
Vol 264 (29) ◽  
pp. 17432-17436
Author(s):  
G Inana ◽  
C Chambers ◽  
Y Hotta ◽  
L Inouye ◽  
D Filpula ◽  
...  
Keyword(s):  
Point Mutation ◽  
Precursor Protein ◽  
Ornithine Aminotransferase ◽  
Gyrate Atrophy

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy

Genomics ◽  
1992 ◽  
Vol 14 (2) ◽  
pp. 553-554 ◽  
Author(s):  
James K. Park ◽  
Bruce J. Herron ◽  
James J. O'Donnell ◽  
Vivian E. Shih ◽  
Vijaya Ramesh
Keyword(s):  
Ornithine Aminotransferase ◽  
Novel Mutations ◽  
Gyrate Atrophy
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