Table 1 of
Chavarria-Soley, Mol Vis 2006;
12:523-531.Table 1 of
Chavarria-Soley, Mol Vis 2006;
12:523-531.
Table 1.
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. [18], and double asterisk indicates that the data is from Michels-Rautenstrauss et al. [15]. PCG: Primary Congenital Glaucoma. RA: Rieger's Anomaly.
Country of Other
Patient Diagnosis origin Mutation 1 Mutation 2 variation
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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
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