The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95% confidence interval ranging from 28 to 76 generations (560–1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95% CI: 40 to 100).
Marques, A. M., Ananina, G., Costa, V. P., De Vasconcellos, J. P. C., & De Melo, M. B. (2018). Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma. PLoS ONE, 13(11). https://doi.org/10.1371/journal.pone.0207409