In this study, we assessed the relationship between PCG and FOXC1 variants by Sanger sequencing the proximal promoter and transcribed sequence of FOXC1 from a cohort of 133 PCG families with no known CYP1B1 or MYOC mutations.
To investigate the role of Cytochrome P1B1 (CYP1B1) gene and Myocillin (MYOC) gene mutations in PCG in the Lebanese population and study possible genotype/phenotype correlations.
We identified two novel MYOC variants, p.Lys39Arg and p.Glu218Lys, in two families with POAG, and six previously reported MYOC mutations in seven families with POAG (four), JOAG (one), PCG (one), and normotensive glaucoma (one).
To investigate the clinical manifestations associated with the mutation spectrums of the human cytochrome P450 (CYP1B1) and myocilin (MYOC) genes in South Korean patients with primary congenital glaucoma (PCG).
The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity.
Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the CYP1B1 and MYOC genes by using bi-directional sequencing.
To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
The present work provides a mutation and intragenic SNP haplotype profile of the CYP1B1 gene in Turkish PCG families and suggests a modest contribution at best of the MYOC gene to PCG in Turkey.
These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease.
However, CYP1B1 mutations have also been associated with cases of juvenile-onset glaucoma in some PCG families or shown to modify the age of onset of glaucoma linked to a MYOC mutation in a large family.