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. 2019 Jan 18;14(1):e0211029. doi: 10.1371/journal.pone.0211029

Fig 3. Evidence for modifier effect of rare PITX2 variants on age at onset and severity in CYP1B1 congenital glaucoma patients.

Fig 3

All mutations were detected in the heterozygous state. Note that subject II:1 in family PCG-133 was diagnosed at the age of 3 months and carried the de novo p.(P179T) PITX2 variant, whereas his brother, who did not carry this variant, was diagnosed at the age of 10 years. The proband in family PCG-139 also carried a rare PITX2 variant (p.(A188T)) and presented glaucoma diagnosed at the age of seven days. Both probands required more surgical operations to control IOP than the rest of patients. Below symbols are indicated genotypes for CYP1B1 and PITX2, age at diagnosis and number or surgical operations per eye, respectively. M1, CYP1B1: p.(A179fs*18). M2, CYP1B1: p.(E387K). M3, CYP1B1: p.(E173*). M4, PITX2: p.(P179T). M5, PITX2: p.(A188T). Arrows show the index cases. +: wild-type allele. The asterisk indicates a de novo PITX2 variant.