Table 1.
Autosomal recessive non-syndromic hearing loss genes and loci according to Hereditary Hearing Loss Homepage [6]
| Locus (OMIM) | Location | Gene (OMIM) | Key references (PubMed) |
|---|---|---|---|
| DFNB1A | 13q12 | GJB2 | [7, 8] |
| DFNB1B | 13q12 | GJB6 | [9] |
| DFNB2 | 11q13.5 | MYO7A | [10–12] |
| DFNB3 | 17p11.2 | MYO15A | [13, 14] |
| DFNB4 | 7q31 | SLC26A4 | [15, 16] |
| DFNB5 (see note 1) | 14q12 | Unknown | [17] |
| DFNB6 | 3p14 p21 | TMIE | [18, 19] |
| DFNB7/11 | 9q13 q21 | TMC1 | [20–22] |
| DFNB8/10 | 21q22 | TMPRSS3 | [23–25] |
| DFNB9 (see note 2) | 2p22-p23 | OTOF | [26, 27] |
| DFNB10 | See DFNB8 | - | - |
| DFNB11 | See DFNB7 | - | - |
| DFNB12 | 10q21 q22 | CDH23 | [28, 29] |
| DFNB13 | 7q34 36 | Unknown | [30] |
| DFNB14 | 7q31 | Unknown | [31] |
| DFNB15/72/95 | 3q21 q25,19p13 | GIPC3 | [32–34] |
| DFNB16 | 15q21 q22 | STRC | [35] |
| DFNB17 | 7q31 | Unknown | [36] |
| DFNB18 | 11p14 15.1 | USH1C | [37–39] |
| DFNB18B | 11p15.1 | OTOG | [40] |
| DFNB19 | 18p11 | Unknown | [41] |
| DFNB20 | 11q25-qter | Unknown | [42] |
| DFNB21 | 11q | TECTA | [43] |
| DFNB22 | 16p12.2 | OTOA | [44] |
| DFNB23 | 10p11.2 q21 | PCDH15 | [45] |
| DFNB24 | 11q23 | RDX | [46] |
| DFNB25 | 4p13 | GRXCR1 | [47] |
| DFNB26 (see note 3) | 4q31 | Unknown | [48] |
| DFNB27 | 2q23 q31 | Unknown | [49] |
| DFNB28 | 22q13 | TRIOBP | [50, 51] |
| DFNB29 | 21q22 | CLDN14 | [52] |
| DFNB30 | 10p11.1 | MYO3A | [53] |
| DFNB31 | 9q32 q34 | WHRN | [54, 55] |
| DFNB32/105 | 1p13.3 22.1 | CDC14A | [56, 57] |
| DFNB33 | 9q34.3 | Unknown | [58] |
| DFNB35 | 14q24.1 24.3 | ESRRB | [59, 60] |
| DFNB36 | 1p36.3 | ESPN | [61] |
| DFNB37 | 6q13 | MYO6 | [62] |
| DFNB38 | 6q26 q27 | Unknown | [63] |
| DFNB39 | 7q21.1 | HGF | [64] |
| DFNB40 | 22q | Unknown | [65] |
| DFNB42 | 3q13.31 q22.3 | ILDR1 | [66, 67] |
| DFNB44 | 7p14.1 q11.22 | ADCY1 | [68, 69] |
| DFNB45 | 1q43 q44 | Unknown | [70] |
| DFNB46 | 18p11.32 p11.31 | Unknown | [71] |
| DFNB47 | 2p25.1 p24.3 | Unknown | [72] |
| DFNB48 | 15q23 q25.1 | CIB2 | [73] |
| DFNB49 | 5q12.3 q14.1. | MARVELD2/BDP1 | [74–76] |
| DFNB51 | 11p13 p12 | Unknown | [77] |
| DFNB53 | 6p21.3 | COL11A2 | [78] |
| DFNB55 | 4q12 q13.2 | Unknown | [79] |
| DFNB59 | 2q31.1 q31.3 | PJVK | [80] |
| DFNB60 | 5q23.2 q31.1 | SLC22A4 | [81] |
| DFNB61 | 7q22.1 | SLC26A5 | [82] |
| DFNB62 | 12p13.2 p11.23 | Unknown | [83] |
| DFNB63 | 11q13.2 q13.4 | LRTOMT/COMT2 | [84, 85] |
| DFNB65 | 20q13.2 q13.32 | Unknown | [86] |
| DFNB66 | 6p21.2 22.3 | DCDC2 | [87] |
| DFNB66/67 | 6p21.31 | LHFPL5 | [88–90] |
| DFNB68 | 19p13.2 | S1PR2 | [91, 92] |
| DFNB71 | 8p2221.3 | Unknown | [93] |
| DFNB72 | See DFNB15 | - | - |
| DFNB73 | 1p32.3 | BSND | [94] |
| DFNB74 | 12q14.2 q15 | MSRB3 | [95, 96] |
| DFNB76 | 19q13.12 | SYNE4 | [97] |
| DFNB77 | 18q12q 21 | LOXHD1 | [98] |
| DFNB79 | 9q34.3 | TPRN | [99] |
| DFNB80 | 2p16.1 p21 | Unknown | [100] |
| DFNB81 | 19p | Unknown | [34] |
| DFNB82 | 1p13.1 | (see note 4) | [101] |
| DFNB83 | See DFNA47 | - | - |
| DFNB84 | 12q21.2 | PTPRQ/OTOGL | [102, 103] |
| DFNB85 | 17p12 q11.2 | Unknown | [101] |
| DFNB86 | 16p13.3 | TBC1D24 | [104, 105] |
| DFNB88 | 2p12 p11.2 | ELMOD3 | [106] |
| DFNB89 | 16q21 q23.2 | KARS | [107] |
| DFNB90 | 7p22.1 p15.3 | Unknown | [108] |
| DFNB91 | 6p25 | SERPINB6 | [109] |
| DFNB93 | 11q12.311 q13.2 | CABP2 | [110] |
| DFNB94 | - | NARS2 | [111] |
| DFNB95 | See DFNB15 | - | - |
| DFNB96 | 1p36.31 p36.13 | Unknown | [112] |
| DFNB97 | 7q31.2q31.31 | MET | [113] |
| DFNB98 | 21q22.3-qter | TSPEAR | [114] |
| DFNB99 | 17q12 | TMEM132E | [115] |
| DFNB100 | 5q13.2 q23.2 | PPIP5K2 | [116] |
| DFNB101 | 5q32 | GRXCR2 | [117] |
| DFNB102 | 12p12.3 | EPS8 | [118] |
| DFNB103 | 6p21.1 | CLIC5 | [119] |
| DFNB104 | 6p22.3 | FAM65B | [120] |
| DFNB105 | See DFNB32 | - | [57] |
| DFNB106 | 11p15.5 | EPS8L2 | [121] |
| DFNB108 | 1p31.3 | ROR1 | [122] |
Note 1: DFNB5 was reported originally as DFNB4.
Note 2: DFNB9 was reported originally as DFNB6.
Note 3: DFNB26 is suppressed by dominant modifier DFNM1.