Table. Deafness genes involved in primary hair-bundle defects.
| Gene | Protein | Forms of human deafness* | Mouse mutants |
|---|---|---|---|
| MYO1A | Myosin IA (motor protein) | DFNA48 | NAc |
| MYO1C | Myosin-1c (motor protein) | DFNAd | Myo1cY61G-33−/− |
| MYH9 | Myosin IIA (motor protein) | DFNA17 Fechtner syndrome |
Myh9+/−b,e |
| MYO3A | Myosin IIIA (motor protein) | DFNB30 | NAc |
| MYO6 | Myosin VI (motor protein) | DFNA22; DFNB37 cardiomyopathy syndromea |
Snell's waltzer (sv); Twist (Twt) |
| MYO7A | Myosin VIIA (motor protein) | DFNB2; DFNA11 Usher syndrome 1Ba |
Shaker-1 (sh1) Headbanger (hdb) |
| MYO15 | Myosin XV (motor protein) | DFNB3 | Shaker-2 (sh2) |
| ACTG1 | γ-actin (cytoskeletal protein) | DFNA20/26 | NAc |
| ESPN | Espin (actin-bundling protein) | DFNB36 DFNAid |
Jerker (je) |
| RDX | Radixin (actin-binding protein) | DFNB24 | Rdx −/−b |
| TRIOBP | TRIOBP (actin-binding protein) | DFNB28 | NAc |
| HDIA1 | Diaphanous-1 (forming-homologous cytoskeleton regulatory protein) |
DFNA1 | NAc |
| Clic5 | Clic5 (chloride intracellular channel) | NAc | jitterbug (jbg) |
| USH1C | Harmonin (PDZ domain-containing protein) | DFNB18; Usher syndrome 1Ca | Deaf circler (dfcr) Ush1c−/−b |
| SANS | Sans (cytoskeletal protein) | Usher syndrome 1Ga | Jackson shaker (js) |
| WHRN | Whirlin (PDZ domain-containing protein) | DFNB31; Usher syndrome 2Da | Whirler (wi) |
| CDH23 | Cadherin-23 (integral membrane adhesion protein) |
DFNB12; Usher syndrome 1Da | Waltzer (v) |
| PCDH15 | Protocadherin-15 (cell adhesion protein) | DFNB23; Usher syndrome 1Fa | Ames waltzer (av) |
| VLGR1 | VLGR1 (Very large G protein-coupled receptor) | Usher syndrome 2Ca |
Vlgr1/del7TM
Vlgr1 −/−b |
| USH2A | Usherin (transmembrane protein) | Usher syndrome 2Aa | Ush2a −/−b |
| Ptprq | Ptprq (transmembrane protein) | NAc | Ptprq−/− |
| STRC | Stereocilin (extracellular protein) | DFNB16 | Strc −/−b |
| PMCA2 | PMCA2 (Ca2+ pump, ATP2B2) | modifier of CDH23 | deafwaddler (dfw); Atp2b2−/− |
| USH3A | Clarin-1 (integral protein) | Usher syndrome 3Aa | NAc |
| TMHS | TMHS (tetraspan) | DFNB67 | Hurry-scurry (hscy) |
| TMC1 | TMC1 (transmembrane channel-like protein) | DFNB7/11; DFNA36 | Deafness (dn); Beethoven (bth) |
| Trpml3 | Trpml3 (TRP channel) | NAc | Varitint-waddler (Va) |
| BBS1 | BBS1 (ciliary protein) | Bardet-Biedl form 1 | Bbs1 −/−b |
| BBS4 | BBS4 (ciliary protein) | Bardet-Biedl form 4 | Bbs4 −/−b |
| BBS8 | BBS8 (ciliary protein) | Bardet-Biedl form 8 | Bbs8 −/−b |
| Ift88 | Polaris (ciliary protein) | PKD | Ift88 CKO/CKOb |
Isolated and/or syndromic forms of human deafness are indicated
Syndromic deafness
Mutant obtained by gene knockout
NA: not available
Subscript i denotes undefined locus number
Mutant not deaf at heterozygous state, lethal at homozygous state
Isolated deafness: DFNA: autosomal dominant mode of inheritance; DFNB: autosomal recessive; DFN: X chromosome-linked transmission
Syndromic deafness forms presented:
Usher syndrome: sensorineural deafness associated to retinitis pigmentosa leading to blindness
Stickler syndrome: sensorineural deafness associated to facial anomalies and ocular degeneration, +/− other features
Fechtner syndrome: giant platelets disorder
Bardet-Biedl syndrome: obesity, retinopathy, polydactyly, hypogonadism, renal anomalies
PKD: Polycystic kidney disease, renal cysts
Details and references in Petit et al, 200199, Frolenkov et al, 20047, Friedman et al, 20078, Brown et al, 20089, Leibovici et al, 200869 See also websites: <http://webh01.ua.ac.be/hhh/>, <http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim&TabCmd=Limits>