Table 1. CLRN1 mutations and their prevalences.
USH3 mutation | Patient ethnicity | Note | Number of novel patients/families reported | Reference |
---|---|---|---|---|
p.C40G
c.118T>G |
Spanish |
homozygote |
1/1 |
[33] |
p.N48K
c.144T>G |
Eastern European Jewish |
5/6 pts homozygotes, 1/6 heterozygote, other allele not found |
6/4 |
[23] |
Ashkenazi Jewish |
homozygote |
16/11 |
[32] |
|
Ashkenazi Jewish |
homozygote heterozygote with p.L150P |
5/5
1/1 |
[29] |
|
Jewish (USA) |
homozygote |
5/5 |
[8] |
|
Ashkenazi Jewish |
homozygote heterozygote, other allele not found |
7/6
2/2 |
[11] |
|
Canadian |
homozygote |
1/1 |
This study |
|
Finnish |
compound heterozygote with p.Y176X |
1/1 |
This study |
|
p.S50fs c.149_152delinsTGTCCAAT |
Scotch-Irish (USA) |
homozygote compound heterozygote with p.Y176X |
1/1
1/1 |
[29] |
UK (USA) |
homozygote |
1/1 |
[8] |
|
German |
compound heterozygote with c.502_503insA |
3/1 |
[18] |
|
p.D55fs
c.165delC |
Dutch (USA) |
heterozygote, other allele not found |
1/1 |
[29] |
Dutch (USA) |
heterozygote, other allele not found |
4/1 |
[8] |
|
p.Y63fs
c.187_209del |
Yemenite Jewish |
homozygote |
2/1 |
[23] |
p.Y63X
c.189C>A |
Spanish |
homozygote |
3/1 |
[23] |
p.S105P
c.313T>C |
Turkish |
homozygote |
2/1 |
[8] |
p.M120K
c.359T>A |
Finnish |
compound heterozygote with p.Y176X |
4/2 |
[22] |
p.A123D
c.368C>A |
French Canadian |
homozygote |
1/1 |
[18] |
Dominican (Canadian) |
homozygote |
1/1 |
This study |
|
p.L150P
c.449T>C |
Ashkenazi Jewish |
compound heterozygote with p.N48K |
1/1 |
[29] |
p.I153_L154delinsM c.459_461del |
Italian |
homozygote |
4/1 |
[22] |
p.I168fs
c.502_503insA |
German |
compound heterozygote with c.149_152delinsTGTCCAAT |
3/1 |
[18] |
p.Y176X c.528T>G | Finnish |
homozygote |
52/21 |
[22] |
Northern European, one family Scotch-Irish (USA) |
homozygote |
11/6 |
[29] |
|
Finnish-Swedish |
homozygote |
13/5 |
[8] |
|
Scotch-Irish (USA) | compound heterozygote with c.149–152del | 3/1 | [8] |
Disease-causing USH3 mutations identified in patients are listed with the number of patients and families reported to be affected by these mutations.