Table 2. Summary of PITX2 variants identified and associated phenotype.
| ID | Age | Sex | Genomic location (NC_000004.12, hg38) | Nucleotide change (NM_153427.2) | Amino acid change (NP_00316.2) | Ocular features | Systemic features | Glc | Age glc/ OHT |
|---|---|---|---|---|---|---|---|---|---|
| 14A | 38 | M | g.110621211_110621232del | c.184_205del22 | p.(Arg62AlafsTer86) | Corectopia | Dental, periumbilical skin, WPW syndrome | Yes | 14 |
| 14B | 66 | F | g.110621211_110621232del | c.184_205del22 | p.(Arg62AlafsTer86) | PAS, IH | Dental, periumbilical skin | Yes | 12 |
| 15A | 82 | M | g.110621225G>A | c.191C>T | p.(Pro64Leu) | Nil | Dental, periumbilical skin | Yes | 48 |
| 15B | 55 | F | g.110621225G>A | c.191C>T | p.(Pro64Leu) | IH, PE, PAS | Dental, umbilical hernia | Yes | 25 |
| 15C | 42 | M | g.110621225G>A | c.191C>T | p.(Pro64Leu) | Mild IH | Dental, periumbilical skin | OHT | 20 |
| 15D | 20 | F | g.110621225G>A | c.191C>T | p.(Pro64Leu) | IH, PE | Dental, periumbilical skin | OHT | 18 |
| 16 | 42 | M | g.110621163C>T | c.252+1G>A | — | IH | Dental, umbilical hernia | Yes | 20 |
| 17A | 20 | M | g.110618670G>C | c.271C>G | p.(Arg91Gly) | PE, PAS, pseudopolycoria | Dental, periumbilical skin | Yes | 9 |
| 17B | 70 | M | g.110618670G>C | c.271C>G | p.(Arg91Gly) | PAS, pseudopolycoria, corectopia | Dental, umbilical hernia, absent left vas deferens | Yes | 28 |
| 17C | 26 | F | g.110618670G>C | c.271C>G | p.(Arg91Gly) | PE, PAS, corectopia | Dental, periumbilical skin | Yes | 26 |
| 18A | 49 | F | g.110618667C>G | c.274G>C | p.(Ala92Pro) | Corectopia, pseudopolycoria, PAS | Dental, periumbilical skin, epilepsy | Yes | 19 |
| 18B | 22 | F | g.110618667C>G | c.274G>C | p.(Ala92Pro) | Corectopia, pseudopolycoria, PAS, PE, IH | Dental, umbilical hernia | Yes | 21 |
| 18C | 16 | F | g.110618667C>G | c.274G>C | p.(Ala92Pro) | Peters, PAS, IH, cataract | Dental, umbilical hernia | OHT | 15 |
| 19 | 7 | M | g.110618315_110618316del | c.487_488delTC | p.(Ser163HisfsTer35) | Rieger anomaly | Dental, periumbilical skin, cleft palate | Yes | 1 |
| 20A | 59 | F | g.110618365_110618386del | c.555_576del22 | p.(Thr186SerfsTer4) | IH, PE | Dental, periumbilical skin | Yes | 26 |
| 20B | 37 | F | g.110618365_110618386del | c.555_576del22 | p.(Thr186SerfsTer4) | IH, PAS, PE | Dental, periumbilical skin | No | — |
| 21A | 24 | M | g.110618293A>T | c.648T>A | p.(Cys216Ter) | PAS, PE, IH, ectropion uvea, pseudopolycoria | Dental, periumbilical skin | Yes | 3 |
| 21B | 18 | F | g.110618293A>T | c.648T>A | p.(Cys216Ter) | PE | Dental, periumbilical skin | No | — |
| 22A | 45 | F | g.(?_110618049)_(110622472_?)del | c.(?_47-1103)_(*76_?)del | — | PE, PAS, IH | Dental, periumbilical skin | No | — |
| 22B | 20 | M | g.(?_110618049)_(110622472_?)del | c.(?_47-1103)_(*76_?)del | — | PE, IH, corectopia, pseudopolycoria | Dental, periumbilical skin, fine motor skills delay | No | — |
| 22C | 17 | F | g.(?_110618049)_(110622472_?)del | c.(?_47-1103)_(*76_?)del | — | PE, IH | Dental, periumbilical skin, imperforate anus | OHT | 17 |
| 23 | 36 | M | g.(111426357_111528916)_(111888401_111990971)del | c.(?_47-1103)_(*76_?)del | — | PAS, corectopia, pseudopolycoria | Dental, umbilical hernia | Yes | 13 |
| 24 | 28 | F | g.(?_110618124)_(110632999_?)del | c.(?_1)_(*1_?)del | — | PE, PAS, IH, corectopia | Dental, periumbilical skin, epilepsy | OHT | 6 |
Abbreviations: Glc, glaucoma; IH, iris stromal hypoplasia; OHT, ocular hypertension; PAS, peripheral anterior synechiae; PE, posterior embryotoxon; WPW, Wolff–Parkinson–White.