Mutations of the CYP1B1 gene in congenital anterior staphylomas.
PMID 24591815 | PMCID PMC3938497 | DOI 10.2147/OPTH.S53200 · Clinical ophthalmology (Auckland, N.Z.) · 2014 · View on PubMed ↗
PURPOSE: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. METHODS: We reviewed the medical records, including the genetic analysis. RESULTS: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. CONCLUSION: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Mutations of the CYP1B1 gene in congenital anterior staphylomas.” | 0.98 | hgnc_dict_v1 |
| population | Population | “The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E).” | 0.80 | saudi_context_rules_v1 |
| variant | g.3987G>A | “The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E).” | 0.95 | hgvs_regex_v1 |
| variant | p.G61E | “The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E).” | 0.95 | hgvs_regex_v1 |
| variant | p.A119S | “The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)].” | 0.95 | hgvs_regex_v1 |
| variant | p.L432V | “The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)].” | 0.95 | hgvs_regex_v1 |