Table 1.
Patients in This Study: Type of Hearing Loss, Inheritance, Genes Screened, Audiogene Prediction, and Final Result
Patient | Inheritance | Type of Hearing Loss | OtoSCOPE Result: Genes with VUS | AudioGene Prediction | Final Result |
---|---|---|---|---|---|
Patient 1 | Dominant | Up-sloping | DSPP, LRTOMT, WFS1 | DFNA6 (WFS1), DFNA11 (MYO7A), DFNA8/12 (TECTA) | WFS1 p.R685P |
Patient 2 | Dominant | Down-sloping | CDH23, GPR98, KCNQ4, WFS1 | DFNA2 (KCNQ4), DFNA10 (EYA4), DFNA9 (COCH) | KNCQ4 p.L281S |
Patient 3 | Dominant | Sharply down-sloping | MYO1A, MYO7A, OTOA, PCDH15, TRIOBP (2) | DFNA2 (KCNQ4), DFNA9 (COCH), DFNA25 (SLC17A8) | MYO7A p.R1743W |
Abbreviation: VUS, variants of unknown significance.