advertisement
Abstract #5165 Published in IGR 1-2
Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea (letter)
Yoon SJ; Kim HS; Moon JI; Lim JM; Joo CKAmerican Journal of Human Genetics 1999; 64: 1775-1778
These authors describe their genetic studies in 45 unrelated patients with primary open-angle glaucoma in Korea. Some 106 patients with diseases other than glaucoma served as controls. Of the 45 patients who were screened for mutations, two were found to carry variants of the TIGR/MYOC gene. It turned out that one proband was diagnosed with JOAG at the age of 15 years. None of the members of her family diagnosed with POAG. The authors also describe a family with possible autosomal recessive inheritance of JOAG. The heterozygotes may develop POAG later in life, because it is known that late onset POAG shows age-dependent penetrance. The authors also report an individual with the C201T mutation in the control group, whose POAG status was not documented. The authors conclude that the mutations in the TIGR/MYOC gene are responsible for JOAG/POAG in Korean patients.
Classification:
1.2 Population genetics (Part of: 1 General aspects)
