Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Nobuo FuseMasae KimuraAi ShimizuSeizo KoshibaTeruhiko HamanakaMakoto NakamuraNobuo IshidaHiroshi SakaiYoko IkedaKazuhiko MoriAtsushi EndoMasao NagasakiFumiki KatsuokaJun YasudaYoichi MatsubaraToru NakazawaMasayuki YamamotoPublished in: Japanese journal of ophthalmology (2024)
Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.