Table 1 of
Souzeau, Mol Vis 2015; 21:160-164. Table 1 of
Souzeau, Mol Vis 2015; 21:160-164.
Table 1. CYP1B1 deletions in primary congenital glaucoma previously reported (Reference genome GRCh37).
| Location (Chr2) | Size | Deletion | Genotype | Ethnicity | Family history | Ref |
|---|---|---|---|---|---|---|
| Intragenic | Intron 2 - exon 3 | Partial | Homozygous | Turkish | Segregated in 3 affected siblings | [5,23] |
| 38,222,086 – 38,368,231 | 146 kb | Whole gene | Homozygous | Cypriot | Negative | [25] |
| 38,191,823 – 38,385,253 | 193 kb | Whole gene | Homozygous | Caucasian | Segregated in 2 affected siblings | [26] |
| 38,187,289 –38,349,505 | 162 kb | Whole gene | Compound heterozygous (T404fs*30) | Spanish | Negative | [24] |