At Least Two Mutant Alleles of Ornithine δ -aminotransferase Cause Gyrate Atrophy of the Choroid and Retina in Finns

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 86; no. 1; pp. 197 - 201
• Main Authors: Mitchell, Grant A., Brody, Lawrence C., Sipila, Ilkka, Looney, James E., Wong, Corinne, Engelhardt, John F., Patel, Achyut S., Steel, Gary, Obie, Cassandra, Kaiser-Kupfer, Muriel, Valle, David
• Format: Journal Article
• Language: English
• Published: Washington, DC National Academy of Sciences of the United States of America 01.01.1989; National Acad Sciences
• Subjects: Alleles; Arginine; Atrophy; Biological and medical sciences; Cell lines; Choroid - pathology; Complementary DNA; DNA; DNA - genetics; Exons; Female; Finland; Genes; Genetic mutation; Genomics; Humans; Leucine; Male; Medical sciences; Mutation; Oats; Ophthalmology; Ornithine-Oxo-Acid Transaminase - genetics; Pedigree; Polymerase chain reaction; Proline; Retina - pathology; Retinal Degeneration - genetics; Retinopathies; RNA; Threonine; Transaminases - genetics; Uveal Diseases - genetics; Finland; Human; Retinopathy; Family study; Europe; Inheritance; Atrophia gyrata; Epidemiology; Gene amplification; Eye disease; Missense mutation; Complementary DNA; Finland; Ornithine―oxo-acid aminotransferase; Chorioretina

Gyrate atrophy of the choroid and retina (GA) is an inherited chorioretinal degeneration caused by deficiency of ornithine δ -aminotransferase (OAT; L-ornithine: 2-oxo-acid aminotransferase; EC 2.6.1.13). GA is one of the ``Finnish genetic diseases,'' a group of several rare monogenic diso...