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