Article
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
Clinical genetics - 1 Jul 2008
Sivadorai P, Cherninkova S, Bouwer S, Kamenarova K, Angelicheva D, Seeman P, Hollingsworth K, Mihaylova V, Oscar A, Dimitrova G, Kaneva R, Tournev I, Kalaydjieva L
Abstract excerpt
Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder of autosomal recessive inheritance, with mutations in the cytochrome P450 1B1 (CYP1B1) gene detected in an average of approximately 50% of cases worldwide. The Roma/Gypsies are considered to be a rare example of a single founder CYP1B1 mutation, E387K (identified in the Slovak Roma), accounting for 100% of disease alleles. Contrary to this...
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