Table 2 of
Chakrabarti, Mol Vis 2005;
11:111-113.Table 2 of
Chakrabarti, Mol Vis 2005;
11:111-113.
Table 2. Genotype and phenotype of glaucoma patients with the MYOC Gln48His mutation
Among all the nine patients harboring the myocilin (NM_000261) mutation, two were also heterozygous for CYP1B1 (NM_000104) mutations. Three of the POAG patients (patient 2, 3, and 4) have been described before [4]. The mutant alleles are enclosed by apostrophes. MYOC mutation: c.144G>T, Gln48His; and CYP1B1 mutations: c.1449G>A, Arg368His and c.1656C>T; Pro437Leu.
Genotypes
Age at -------------------------
Patient symptom MYOC CYP1B1
Number Phenotype onset (c.144) (c.1449/c.1656)
------- --------- -------- --------- ---------------
1 POAG 37 years (G,'T') (G,G)/(C,'T')
2 JOAG - (G,'T') (G,G)/(C,C)
3 POAG - (G,'T') (G,G)/(C,C)
4 JOAG - (G,'T') (G,G)/(C,C)
5 PCG at birth ('T','T') (G,G)/(C,C)
6 PCG at birth (G,'T') (G,G)/(C,C)
7 PCG at birth (G,'T') (G,G)/(C,C)
8 PCG 4 months (G,'T') (G,G)/(C,C)
9 PCG at birth (G,'T') (G,'A')/(C,C)
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