Table 1.
Link type | Composition | Appearance in mouse |
Associated proteins /regulators |
Associated human deafness loci |
|
---|---|---|---|---|---|
Permanent | Tip | CDH23 PCDH15 |
E17.5 | myosin VIIa, SANS, harmonin TMHS/LHFPL5 |
USH1* |
Horizontal top connectors |
stereocilin | P9 | None reported | DFNB16 | |
Transient | Tansient lateral links / Shaft connectors |
CDH23 PCDH15 / PTPRQ? |
E17.5 | myosin VIIa, SANS, harmonin |
USH1* |
Kinociliary | CDH23 PCDH15-CD2 |
E17.5 | myosin VIIa, SANS, harmonin |
USH1* | |
Ankle | GPR98 VLGR1 usherin |
P0 | PDZD7, whirlin | USH2* |
This link type is also associated with additional forms of nonsydromic hearing loss. See http://hereditaryhearingloss.org for a comprehensive list.