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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Human mutation - 1 Sept 2008

Chavarria-Soley Gabriela, Sticht Heinrich, Aklillu Eleni, Ingelman-Sundberg Magnus, Pasutto Francesca, Reis André, Rautenstrauss Bernd

Abstract excerpt

Primary congenital glaucoma (PCG) is an autosomal recessive disorder caused predominantly by mutations in the CYP1B1 gene. A total of five frequent single nucleotide polymorphisms (SNPs) have been identified in the coding sequence of CYP1B1: rs10012C>G (p.R48G), rs1056827G>T (p.A119S), rs1056836C>G (p.V432L), rs1056837C>T (p.D449D), and rs1800440A>G (p.N453S). We performed a functional characterization of four...

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PMID: 18470941
DOI: 10.1002/humu.20786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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