Table 2.
Summary of mutations identified in this study
| Patient (Het/Homo) | Exon | Sequence change | Protein effect |
|---|---|---|---|
| EVC mutations | |||
| 4–12a (Homo) | 14 | Del_IVS13 (−9 to +14) | Predicted splice error |
| 10–3a (Homo) | 6 | c.770T > A | p.L256X |
| LBN mutations | |||
| 7–11a (Homo) | 9 | c.1024A > T | p.K342X |
| 8–3 (Compound Het) | 15 | c.2698G > T | p.Q900X |
| 21 | IVS21 + 2T > Cb | Predicted splice error | |
| 11–3 (Compound Het) | 5 | c.619G > T | p.D207Yc,d |
| 15 | c.2620C > T | p.R874X | |
aParents unrelated based on haplotyping studies.
bPreviously reported.
cConserved in mouse and chicken.
dChange not present in 100 control chromosomes.