Table 1 of
Chavarria-Soley, Mol Vis 2006;
Patients included in this study, their diagnosis and observed CYP1B1 mutations or variations. The short form of the nomenclature recommendation is used. For patients PCG-6 and RA-1, the assumed second mutation is not known and is marked with a question mark. The single asterisk indicates that the data is from Soley et al. , and double asterisk indicates that the data is from Michels-Rautenstrauss et al. . PCG: Primary Congenital Glaucoma. RA: Rieger's Anomaly.
Country of Other Patient Diagnosis origin Mutation 1 Mutation 2 variation ----------- --------- ------------ -------------- -------------- --------- Families PCG-CR1* PCG Costa Rica c.1200-1209dup c.1200-1209dup PCG-R1-I:2 PCG Russia c.1064-1076del c.155insC PCG-R1-II:2 Russia c.1064-1076del E229K Simplex patients PCG-1** PCG Turkey R355X R355X PCG-2* PCG Turkey c.279delC c.279delC PCG-3** PCG Germany c.1064-1076del c.1200-1209dup PCG-4 PCG Switzerland c.1064-1076del Q42X PCG-5 PCG Germany c.1064-1076del c.1377-1403dup PCG-6 PCG Germany Y81N ? PCG-7 PCG Germany c.1064-1076del W434X PCG-8 PCG USA c.1064-1076del E387K PCG-9 PCG USA E387K R469W PCG-10 PCG USA E387K R469W PCG-11 PCG USA c.1377-1403dup c.1377-1403dup PCG-12 PCG USA R368H c.1200-1209dup PCG-13 PCG USA W57X E387K PCG-14 PCG USA G61E c.1200-1209dup PCG-15 PCG USA E387K E387K PCG-16 PCG Saudi Arabia G61E G61E PCG-17 PCG Saudi Arabia G61E G61E PCG-18 PCG Saudi Arabia G61E G61E PCG-19 PCG Saudi Arabia G61E G61E PCG-20 PCG Saudi Arabia G61E G61E PCG-21 PCG Saudi Arabia G61E G61E PCG-22 PCG Saudi Arabia G61E G61E PCG-23 PCG Saudi Arabia G61E G61E PCG-24 PCG Saudi Arabia c.433-442del c.433-442del RA-1 RA Germany R368H ? RA-2 RA Germany W57X c.1200-1209dup RA-3 RA Germany W57X c.1033-1035del