Literature record
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
PMID 21596299 | DOI 10.1016/j.jaapos.2011.01.156 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2011 · View on PubMed ↗
We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family. The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
| variant | p.G61E | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.95 | hgvs_regex_v1 |