Table 3.
Locus (OMIM) | Location | Gene (OMIM) | Key references (PubMed) |
---|---|---|---|
X-linked | |||
DFNX1a | Xq22 | PRPS1 | [208] |
DFNX2 | Xq21.1 | POU3F4 | [209] |
DFNX3 | Xp21.2 | Unknown | [210, 211] |
DFNX4 | Xp22 | SMPX | [212] |
DFNX5 | Xq26.1 | AIFM1 | [213] |
DFNX6 | Xp22.3 | COL4A6 | [214] |
| |||
Y-linked | |||
DFNY1 | Y | Unknown | [215] |
| |||
Modifier | |||
DFNM1 | 1q24 | Unknown | [48] |
DFNM2 | 8q23 | Unknown | [216] |
| |||
AUNA-Auditory | Neuropathy | [217, 218] | |
AUNA1 | 13q14-21 | DIAPH3 |
Previous nomenclature designated X-linked loci as DFN but this has been changed to DFNX.