Table 1. Thirteen different variants were identified in 10 patients.
| Case | Gene | Variant type | Inheritance | Nucleotide change | Protein change | Genotype | SIFT | Polyphen2 | Mutation Taster | 1000 Genomes ASN |
ExAC ASN |
Normal control (allele fre, %) | Pathogenicity (Deafness variation databasea) |
AMA and ACMG guidelines |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DE2864 | WFS1 | Missense | AD | NM_006005.3:c.173C>T | NP_005996.2:p.(Ala58Val) | Het | T | PD | N | 0 | 0.0046 | 0 | Pathogenic (Wolfram syndrome) | Uncertain significance |
| DE3221 | COL11A2 | Missense | AR/AD | NM_080680.2:c.191G>A | NP_542411.2:p.(Arg64Gln) | Het | T | PD | D | 0.001 | 0.0011 | 0 | VUS | Uncertain significance |
| DE3241 | MYO3A | Missense | AR | NM_017433.4:c.1256T>C | NP_059129.3:p.(Ile419Thr) | Hom | D | B | D | 0 | 0.0023 | 0 | VUS | Uncertain significance |
| DE3335 | DSPP | Inversion | AD | NM_014208.3:c.3021_3022inv | NP_055023.2:p.(Asp1008Asn) | Het | T | PD | P | 0 | 0 | 0 | - | Uncertain significance |
| DE3386 | MYH14 | Missense | AD | NM_024729.3:c.2080C>T | NP_079005.3:p.(Arg694Cys) | Het | D | D | D | 0 | 0 | 0 | - | Likely pathogenic |
| MYO15A | Missense | AR | NM_016239.3:c.4457G>T | NP_057323.3:p.(Gly1486Val) | Het | D | D | D | 0 | 0 | 0 | - | Likely pathogenic | |
| MYO15A | Missense | AR | NM_016239.3:c.4101C>A | NP_057323.3:p.(Asn1367Lys) | Het | D | D | D | 0 | 0 | 0 | - | Likely pathogenic | |
| DE3395 | ACTG1 | Missense | AD | NM_001199954.2:c.830C>T | NP_001186883.1:(p.Thr277Ile) | Het | D | D | D | 0 | 0 | 0 | - | Likely pathogenic |
| DE4372 | MYO15A | Missense | AR | NM_016239.3:c.5443C>A | NP_057323.3:p.(Gln1815Lys) | Het | D | D | D | 0 | 0 | 0 | - | Uncertain significance |
| MYO15A | Missense | AR | NM_016239.3:c.5977C>T | NP_057323.3:p.(Arg1993Trp) | Het | D | D | D | 0 | 0 | 0 | VUS | Likely pathogenic | |
| DE4377 | TMC1 | Missense | AR/AD | NM_138691.2:c.1632T>G | NP_619636.2:p.(Phe544Leu) | Het | T | PD | D | 0 | 0 | 0 | VUS | Uncertain significance |
| DE4467 | GRHL2 | Missense | AD | NM_024915.3:c.193G>A | NP_079191.2:p.(Gly65Ser) | Het | T | PD | D | 0 | 0 | 0 | - | Uncertain significance |
| DE4702 | TMC1 | Missense | AR/AD | NM_138691.2:c.1777T>C | NP_619636.2:p.(Phe593Leu) | Het | D | B | D | 0 | 0 | 0 | - | Uncertain significance |
a Deafness variation database (http://deafnessvariationdatabase.org/)
B: Benign; T: Tolerated; D: Damaging/deleterious; PD: Probably damaging; NA: Not available; N: Polymorphism
VUS: Variant of uncertain significance
AD: Autosomal dominant; AR: Autosomal recessive