Table 2. Summary of causal alleles identified in our cohort of primary congenital glaucoma.
| Family ID | Individuals ascertained | Affecteds ascertained | Two-point LOD score | Mutation (nucleotide change) | Mutation (amino acid change) | Status |
In Silico Prediction
|
||
|---|---|---|---|---|---|---|---|---|---|
| Known/novel | Condel | PolyPhen-2 | SIFT | ||||||
| PKGL001 | 10 | 5 | 1.87 | c.1405C>T | p.R469W | Known | De (1) | PD (1) | Da (0) |
| PKGL014 | 8 | 4 | 3.01 | c.1300T>C | p.W434R | Known | De (1) | PD (1) | Da (0) |
| PKGL028 | 12 | 6 | 5.28 | c.1405C>T | p.R469W | Known | De (1) | PD (1) | Da (0) |
| PKGL032 | 7 | 2 | 1.68 | c.1200_1209dup | p.T404Sfs30* | Known | |||
| PKGL040 | 5 | 2 | 1.59 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL046 | 8 | 5 | 2.64 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL047 | 9 | 4 | 1.52 | c.736_737insT, c.685G>A | p.W246Lfs81*, p.E229K | Novel, Known | De (0.605) | PD (0.950) | Da (0) |
| PKGL050 | 9 | 3 | 2.27 | c.1331G>A | p.R444Q | Known | De (1) | PD (1) | Da (0) |
| PKGL051 | 4 | 1 | 1.03 | c.241T>A | p.Y81N | Known | De (0.998) | PD (1) | Da (0) |
| PKGL058 | 2 | 1 | 0.82 | c.1103G>A | p.R368H | Known | De (0.994) | PD (1) | Da (0) |
| PKGL060 | 5 | 2 | 1.37 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL065 | 13 | 4 | 3.87 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL066 | 12 | 6 | 5.01 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL067 | 9 | 3 | 3.18 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL068 | 10 | 7 | 3.28 | c.1325delC | p.P442Qfs15* | Novel | |||
| PKGL069 | 5 | 3 | 1.39 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL070 | 9 | 3 | 2.54 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL071 | 8 | 4 | 3.54 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL072 | 7 | 3 | 2.45 | c.109C>T, c.1103G>A | p.Q37* p.R368H | KnownKnown | De (0.994) | PD (1) | Da (0) |
| PKGL073 | 9 | 5 | 3.34 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL077 | 7 | 4 | 2.53 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL079 | 9 | 6 | 2.66 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
| PKGL082 | 5 | 3 | 2.07 | c.1169G>A | p.R390H | Known | De (1) | PD (1) | Da (0) |
Abbreviations: Da, damaging; De, deleterious; LOD, logarithm of odds; PD, probably damaging.
Parentheses show scores of prediction algorithms: Condel, PolyPhen-2 and SIFT.