Table 1 of Reis, Mol Vis 2016; 22:1229-1238.


Table 1. Pediatric phenotypes and CYP1B1 genotypes.

Patient# Race/ethnicity CYP1B1 mutationa Functional predictionb Allele frequencyc # homozygote controlsd Eye Family history
1 Caucasian (U.S./Spain) c.1064_1076del p.(Arg355Hisfs*69) (mat) Premature truncation NP 0 Bilateral PCG Brother with PCG; several relatives with adult-onset glaucoma; distant cousin with PCG
c.1159G>A p.(Glu387Lys) (pat) Damaging by 5/5 (S, PP, MT, MA, F) 36/64286 0
2 S. Asian (Pakistan) homozygous c.1325delC p.(Pro442Glnfs*15) (mat + pat) Premature truncation 1/16512 0 Bilateral PCG Extensive family history of PCG
3 Hispanic (U.S.) c.535delG p.(Ala179Argfs*18) (pat) Premature truncation 0/1080 0 Bilateral CG, right form fruste Axenfeld anomaly (synechia and pupil eccentricity) Maternal grandmother with adult-onset glaucoma
c.1064_1076del p.(Arg355Hisfs*69) (mat) Premature truncation NP 0
4 Caucasian (Turkey) homozygous c.1103G>A p.(Arg368His) 
(mat + pat) Damaging by 4/5 (S, PP, MT, MA) 184/63292 9 SA
1 Eu Bilateral CG, iris hypoplasia, posterior embryotoxon Consanguinity; maternal grandmother with vision loss later in life
5 Caucasian (U.S.) c.182G>A p.(Gly61Glu) (pat) Damaging by 5/5 (S, PP, MT, MA, F) 22/26024 0 Bilateral infantile glaucoma (<1 year of age) and iris hypoplasia Father with mild iris dysplasia; paternal great grandfather with adult-onset glaucoma
c.1064_1076del p.(Arg355Hisfs*69) Premature truncation NP 0
6 Caucasian (Iran) homozygous
c.182G>A, p.(Gly61Glu) 
(mat + pat) Damaging by 5/5 (S, PP, MT, MA, F) 22/26024 0 Bilateral CG and sclerocornea Consanguinity; no history of ocular disorders
7 Caucasian (Lebanon) c.157G>A p.(Gly53Ser) (mat) Damaging by 5/5 (S, PP, MT, MA, F) NP 0 Bilateral CG and Peters anomaly, right microphthalmia Consanguinity; no history of ocular disorders
c.1405C>T, p.(Arg469Trp) (pat) Damaging by 4/5 (S, PP, MT, MA) 5/66734 0