Table 1. List of patients with causative variants in HI-related genes.
| Patient | Gene, Ref Seq transcript ID | Variant 1 nucleotide change (protein change) | Variant 2 nucleotide change (protein change) | Zygositya | Segregating with HIb |
|---|---|---|---|---|---|
| AD1c | MYO6 NM_004999.3 | c.1546+1G>T (p.?) | - | het | Yes |
| AD2 | WFS1 NM_006005.3 | c.2051C>T (p.(Ala684Val))c | - | het | ND |
| AD3 | TECTA ENST00000392793.1 | c.6002G>T (p.(Cys2001Phe)) | - | het | de novo |
| AD4 | MYO7A NM_000260.3 | c.1373A>T (p.(Asn458Ile))c | - | het | Yes |
| AD5c | MYO6 NM_004999.3 | c.1211del (p.(Gly404Glufsa4)) | - | het | Yes |
| AD6c | MYH9 NM_002473.5 | c.2507C>T (p.(Pro836Leu)) | - | het | Yes |
| AD7 | POU4F3 NM_002700.2 | c.828_829insT (p.(Lys277a)) | - | het | ND |
| AD8 | MYO7A NM_000260.3 | c.652G>A (p.(Asp218Asn)) | - | het | Yes |
| AD9 | POU4F3 NM_002700.2 | c.668T>C (p.(Leu223Pro))c | - | het | ND |
| AD10 | MYO6 NM_004999.3 | c.3395del (p.(Lys1132Serfsa12)) | - | het | Yes |
| AD11 | SOX10 NM_006941.3 | c.1195C>T (p.(Gln399a)) | - | het | ND |
| AD12 | MITF NM_000248.3 | c.649del (p.(Arg217Aspfsa4))c | - | het | Yes |
| AD13 | MYO7A NM_000260.3 | c.2617C>T (p.(Arg873Trp))c | - | het | Yes |
| AD14 | TECTA ENST00000392793.1 | c.5794A>C (p.(Thr1932Pro)) | - | het | Yes |
| AD15 | MYH14 NM_001145809.1 | c.5176C>T (p.(Arg1726Trp)) | - | het | Yes |
| AD16 | WFS1 NM_006005.3 | c.2032T>C (p.(Trp678Arg)) | - | het | Yes |
| AD17 | MYO6 NM_004999.3 | c.584C>A (p.(Ala195Glu)) | - | het | Yes |
| AD18 | TECTA ENST00000392793.1 | c.5597C>T (p.(Thr1866Met))c | - | het | Yes |
| AR1c | USH2A NM_206933.2 | c.(9371+1_9372-1)_(9570+1_9571-1)del (p.?) | c.(9371+1_9372-1)_(9570+1_9571-1)del (p.?) | hom | ND |
| AR2 | OTOA ENST00000388958 | c.(?_-1)_(a1_?)delc | c.(?_-1)_(a1_?)delc | hom | ND |
| AR3c | CIB2 NM_006383.3 | c.97C>T (p.(Arg33a)) | c.196C>T (p.(Arg66Trp)) | compound het | Yes |
| AR4 | STRC NM_153700.2 | c.(?_-1)_(a1_?)delc | c.(?_-1)_(a1_?)delc | hom | Yes |
| AR5 | USH2A NM_206933.2 | c.(8845+1_8846-1)_(9371+1_9372-1)del (p.?) | c.(8845+1_8846-1)_(9371+1_9372-1)del (p.?) | hom | Yes |
| AR6 | TMC1 NM_138691.2 | c.646del (p.(Leu216Serfsa54)) | c.790C>T (p.(Arg264a)) | ND | ND |
| AR7 | CDH23 NM_022124.5 | c.6442G>A (p.(Asp2148Asn))c | c.1545_1547del (p.(Ile515del))c | compound het | ND |
| AR8 | USH2A NM_206933.2 | c.1606T>C (p.(Cys536Arg))c | c.9815C>T (p.(Pro3272Leu))c | compound het | Yes |
| AR9 | GJB2 NM_004004.5 | c.35del (p.(Gly12Valfsa2))c | c.71G>A (p.Trp24a))c | ND | ND |
| AR10 | GJB2 NM_004004.5 | c.35del (p.(Gly12Valfsa2))c | c.35del (p.(Gly12Valfsa2))c | hom | ND |
| AR11 | CDH23 NM_022124.5 | c.2096A>G (p.(Asp699Gly)) | c.4562A>G (p.(Asn1521Ser)) | compound het | Yes |
| AR12 | GJB2 NM_004004.5 | c.-23+1G>A (p.?)c | c.35del (p.(Gly12Valfsa2))c | compound het | ND |
| AR13 | MYO7A NM_000260.3 | c.3289C>T (p.(Gln1097a)) | c.3862G>C (p.(Ala1288Pro))c | compound het | ND |
| c.5227C>T (p.Arg1743Trp)c | |||||
| AR14 | STRC NM_153700.2 | c.(?_-1)_(a1_?)delc | c.(?_-1)_(a1_?)delc | hom | ND |
| AR15 | PCDH15 NM_033056.3 | c.3374-2A>G (p.?) | c.4127C>A (p.(Ala1376Asp)) | compound het | Yes |
| AR16 | STRC NM_153700.2 | c.(?_-1)_(a1_?)delc | c.(?_-1)_(a1_?)delc | hom | ND |
| AR17 | LOXHD1 NM_144612.6 | c.1618dup (p.(Thr540Asnfsa24)) | c.1730T>G (p.(Leu577Arg)) | compound het | Yes |
| AR18 | USH2A NM_206933.2 | c.5018T>C (p.(Leu1673Pro)) | c.2299del (p.(Glu767Serfsa21)) | compound het | ND |
| c.7871C>T (p.(Pro2624Leu)) | |||||
| ISO1c | MYO15A NM_016239.3 | c.625G>T (p.(Glu209a)) | c.1137del (p.(Tyr380Metfsa64))c | ND | ND |
| ISO2c | USH2A NM_206933.2 | c.5385T>A (p.(Tyr1795a)) | c.6846_6849dup (p.(His2284Asnfsa48)) | ND | ND |
| ISO3 | CDH23 NM_022124.5 | c.8480_8481del (p.(Leu2827Hisfsa23)) | c.8480_8481del (p.(Leu2827Hisfsa23)) | hom | ND |
| ISO4c | MYO15A NM_016239.3 | c.6764+2T>A (p.?) | c.3844C>T (p.(Arg1282Trp) | ND | ND |
| c.5287C>T (p.(Arg1763Trp)) | |||||
| ISO5 | GJB2 NM_004004.5 | c.101T>C (p.(Met34Thr))17 | c.109G>A (p.(Val37Ile))17 | compound het | ND |
| ISO6 | WFS1 NM_006005.3 | c.2051C>T (p.(Ala684Val))2 | - | het | ND |
| ISO7 | MYO15A NM_016239.3 | c.6787G>A (p.(Gly2263Ser)) | c.7893+1G>A (p.?) | compound het | ND |
| ISO8 | TRIOBP NM_001039141.2 | c.2653del (p.(Arg885Alafsa120)) | c.5014G>T (p.(Gly1672a)) | compound het | ND |
| ISO9 | USH2A NM_206933.2 | c.2299del (p.(Glu767Serfsa21)) | c.920_923dup (p.(His308Glnfsa16)) | compound het | ND |
| ISO10 | MYO7A NM_000260.3 | c.3476G>T (p.(Gly1159Val))c | c.5560G>A (p.Val1854Met))c | compound het | ND |
| ISO11 | GJB2 NM_004004.5 | c.250G>C(p.(Val84Leu)) | c.269T>C (p.(Leu90Pro))c | ND | ND |
| ISO12 | GJB2 NM_004004.5 | c.109G>A (p.(Val37Ile))c | c.109G>A (p.(Val37Ile))c | hom | ND |
| ISO13 | TMPRSS3 NM_024022.2 | c.916G>A (p.(Ala306Thr))c | c.1276G>A (p.(Ala426Thr))c | ND | ND |
| ISO14 | STRC NM_153700.2 | c.(?_-1)_(a1_?)delc | c.(?_-1)_(a1_?)delc | hom | ND |
| ISO15 | GJB2 NM_004004.5 | c.35del (p.(Gly12Valfsa2))c | c.101T>C (p.(Met34Thr))c | compound het | ND |
| ISO16 | ACTG1 NM_001199954.1 | c.773C>T (p.(Pro258Leu)) | - | het | de novo |
| ISO17 | GJB2 NM_004004.5 | c.35del (p.(Gly12Valfsa2))c | c.508_511dup p.Ala171Glufsa40))c | compound het | ND |
| ISO18 | MYO15A NM_016239.3 | c.3311dup (p.(Glu1105a)) | c.3311dup (p.(Glu1105a)) | hom | ND |
| ISO19 | TRIOBP NM_001039141.2 | c.3460_3461del (p.(Leu1154Alafsa29)) | c.3232dup (p.(Arg1078Profsa6))c | compound het | ND |
| ISO20 | MYO7A NM_000260.3 | c.5618G>A (p.(Arg1873Gln))c | c.6028G>A (p.(Asp2010Asn))c | compound het | ND |
| ISO21 | MYO6 NM_004999.3 | c.3610C>T (p.(Arg1204Trp))c | - | het | de novo |
| ISO22 | SLC26A5 NM_198999.2 | c.355C>T (p.(Pro119Ser)) | c.355C>T (p.(Pro119Ser)) | hom | ND |
| ISO23 | GJB2 NM_004004.5 | c.101T>C (p.(Met34Thr))c | c.109G>A (p.(Val37Ile))c | compound het | ND |
| ISO24 | SOX10 NM_006941.3 | c.482G>A (p.(Arg161His))c | - | het | de novo |
| ISO25 | MYO6 NM_004999.3 | c.3335A>G (p.(Tyr1112Cys)) | c.1897del (p.(Gln633Lysfsa19)) | compound het | ND |
| ISO26 | LARS2 NM_015340.3 | c.683G>A (p.(Arg228His)) | c.880G>A (p.(Glu294Lys)) | compound het | ND |
| ISO27 | OTOA ENST00000388958 | c.(?_-1)_(a1_?)delc | c.(?_-1)_(a1_?)delc | hom | ND |
| ISO28c | COL11A1 NM_001854.3 | c.1630-2del (p.?) | - | het | ND |
| ISO29 | LOXHD1 NM_144612.6 | c.3061+1G>A (p.?) | c.6353G>A (p.(Gly2118Glu)) | ND | ND |
| ISO30 | LOXHD1 NM_144612.6 | c.3061C>T (p.(Arg1021a)) | c.5885C>T (p.(Thr1962Met)) | compound het | ND |
| ISO31 | SLC26A4 NM_000441.1 | c.505del (p.(Thr169Leufsa3)) | c.1334T>G (p.(Leu445Trp))c | compound het | ND |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; het, heterozygous; HI, hearing impairment; hom, homozygous; ISO, isolated; ND, not determined or not conclusive.
a
Zygosity, determined on basis of segregation analysis in the parents.
b
Segregating with HI, determined on basis of segregation analysis in affected and/or unaffected family members.
c
Mutations that have been described in literature before, the corresponding references are provided in Supplementary Table S2.