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 |
PCG=Primary congenital glaucoma; CG=Congenital Glaucoma; ASD=Anterior segment dysgenesis; NP=Not Present; (mat): mutation present in the mother, (pat): mutation present in the father; novel pathogenic alleles and phenotypic features are shown in bold font a Nucleotide numbering is relative to reference sequence NM_000104.3 where +1 is the A of the ATG initiation codon b Five prediction algorithms (SIFT (S), PolyPhen2 (PP), MutationTaster (MT), MutationAssessor (MA), FATHMM (F)) from dbNSFP 2.9 were accessed through SNP & Variation Suite (Golden Helix, Bozeman, MT) c Allele frequency for most closely related ethnic populations provided (European, S. Asian or Latino); in ExAC (Exome Aggregation Consortium; EXAC) d Number of homozygotes present in ExAC is noted Eu: European, SA: South Asian,