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Editors Selection IGR 7-2
Genetics
Comment by John Fingert on:
12058 Myocilin gene implicated in primary congenital glaucoma, Kaur K; Reddy ABM; Mukhopadhyay A et al., Clinical Genetics, 2005; 67: 335-340
Three genetic loci for autosomal recessive primary congenital glaucoma (PCG) have been mapped (GLC3A, GLC3B, and GLC3C) and the disease-causing gene in the GLC3A loci (CYP1B1) has been identified. Mutations in CYP1B1 account for the majority of familial PCG and a fraction of sporadic cases. Mutations in CYP1B1 have also been observed to modify the phenotype of glaucoma associated with a myocilin mutation. In their recent manuscript, Kaur et al. (IGR 7-1: 70) explored the possibility that mutations in myocilin might also be associated with PCG. A cohort of PCG patients was previously screened for CYP1B1 mutations and 40% were found to have disease due to either homozygous or compound heterozygous mutations in this gene. The remaining 72 PCG patients of the cohort were screened for variations in the myocilin gene. A myocilin variant (GLN48HIS) was identified in four PCG pedigrees, each consisting of a single affected subject. In one pedigree the affected patient also harbored an ARG368HIS variant in CYP1B1. Neither variant was observed in 100 ethnically matched controls. The GLN48HIS variant had been previously reported in sporadic cases of juvenile glaucoma in India and the ARG368HIS mutation has been previously implicated as a modifier of open angle glaucoma associated with a GLY399VAL myocilin mutation. These results raise the possibility that variants in myocilin might be associated with a fraction of sporadic cases of PCG. Replication of this study with larger pedigrees and larger cohorts might provide additional statistical or co-segregation support for the proposed role of myocilin in PCG.
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