Table 2. Summary of 45 sequencing variants identified in nine functional candidate genes sequenced in five affected members with a range of anterior segment dysgenesis from mild phenotype to Peters anomaly, and two unaffected members.
| Gene | Sequence variants | Location of variant | Protein effect | dnSNP ID | Disease segregation |
|---|---|---|---|---|---|
| PAX6 (11p13) | c.−4393 G<A | 5′ UTR | None | Not listed | No |
| c.1074+107 C<T | Intronic | None | rs3026384 | No | |
| c.1075−174 G<A | Intronic | None | rs2071754 | No | |
| c.1225+44 T<G | Intronic | None | rs3026393 | No | |
| c.1746+21 delA | Intronic | None | Not listed | No | |
| PITX2 (4q25) | c.−485 C<G | 5′ UTR | None | rs2739200 | No |
| c.629−105 C>A | Intronic | None | Not listed | No | |
| c.767−81 A>C | Intronic | None | Not listed | No | |
| PITX3 (10q24.32) | c.285 C<T | Coding | I95I | rs2281983 | No |
| FOXC1 (6p25.3) | c.1123_1124 ins CGG | Coding | ins 375 G | rs71807729 | No |
| c.1361 ins CGG | Coding | ins 456 G | Not listed | No | |
| CYP1B1 (2p22.2) | c.−12 C<T | 5′ UTR | None | rs2617266 | No |
| c.142 C<G | Coding | R48G | rs10012 | No | |
| c.355 G<T | Coding | A119S | rs1056827 | No | |
| c.1294 G<C | Coding | V432 L | rs1056836 | No | |
| c.1347 T<C | Coding | D449D | rs1056837 | No | |
| c.1358 A<G | Coding | N453S | rs1800440 | No | |
| c.1633+ 210ins T | 3′ UTR | None | Not listed | No | |
| c.1633+350 C>A | 3′ UTR | None | Not listed | No | |
| c.1633+693 G>T | 3′ UTR | None | Not listed | No | |
| c.1633+809 del A | 3′ UTR | None | Not listed | No | |
| c.1633+875 A>G | 3′ UTR | None | Not listed | No | |
| c.1633+2408 A<T | 3′ UTR | None | Not listed | No | |
| B3GALTL (13q12.3) | c.71−5 del T | Intronic | None | Not listed | No |
| c.271−58 delT | Intronic | None | Not listed | No | |
| c.271−67 T>C | Intronic | None | Not listed | No | |
| c.347+20 C<G | Intronic | None | Not listed | No | |
| c.348 T<C | Coding | H116H | Not listed | No | |
| c.596+20 delC | Intronic | None | Not listed | No | |
| c.597−168 delA | Intronic | None | Not listed | No | |
| c.780+58 A<G | Intronic | None | Not listed | No | |
| c.781−124 G<C | Intronic | None | Not listed | No | |
| c.781−31 ins CATA | Intronic | None | Not listed | No | |
| c.1065−142 T<C | Intronic | None | rs1041073 | No | |
| c.1108 G<A | Coding | E370K | Not listed | No | |
| c.1497+31 G>T | 3′ UTR | None | Not listed | No | |
| c.1497+37 A>G | 3′ UTR | None | Not listed | No | |
| c.1497+127 G>A | 3′ UTR | None | Not listed | No | |
| c.1497+938 delT | 3′ UTR | None | Not listed | No | |
| c.1497+1548 C>T | 3′ UTR | None | Not listed | No | |
| CRYAA (21q22.3) | c.6 C<T | Coding | D2D | Not listed | No |
| GJA8 (1q21.1) | c.1365+26 delA | Intronic | None | Not listed | No |
| FOXE3 (1p33) | c.959 G>T | Coding | X320L | Not listed | Yes |
| c.960+72 T>C | 3′ UTR | None | rs2820969 | No | |
| c.960+77 A>G | 3′ UTR | None | rs6666370 | No |
The non-stop mutation identified in FOXE3 indicated in bold.