Table 3. Characterization of novel changes identified in the complete screening.
| Patient’s origin | Gene | Change | Polyphen prediction | PON-P prediction | Controls | Segregation |
|---|---|---|---|---|---|---|
| German |
PRPF4 |
p.Pro187Ala |
Probably damaging |
Unclassified, Probability of pathogenicity: 0.27 |
0/189 |
Positive |
| American Indian- French Canadian/Irish |
EFTUD2 |
p.Arg220Cys |
Probably damaging |
Pathogenic, Probability of pathogenicity: 0.91 |
0/150 |
Positive |
| - |
EFTUD2 |
p.Ile80Leu |
Benign |
Neutral, Probability of pathogenicity: 0.02 |
Not available |
Not available |
| Italian | NHP2L1 | chr22:42078408 NM_005008.2:c.-46G>A Creation of upstream out of frame ORF | 0/150 | Negative | ||
Prediction of pathogenicity was made using Polyphen and PON-P [22]. In addition to database consultation, in-house controls were performed by direct Sanger sequencing (PRPF4) or restriction enzymes (EFTUD2 and NHP2L1).