Skip to main content
. 2009 Sep 8;15:1806–1818.

Table 1. CLRN1 mutations and their prevalences.

USH3 mutation Patient ethnicity Note Number of novel patients/families reported Reference
p.C40Gc.118T>G
Spanish
homozygote
1/1
[33]
p.N48Kc.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.D55fsc.165delC
Dutch (USA)
heterozygote, other allele not found
1/1
[29]
Dutch (USA)
heterozygote, other allele not found
4/1
[8]
p.Y63fsc.187_209del
Yemenite Jewish
homozygote
2/1
[23]
p.Y63Xc.189C>A
Spanish
homozygote
3/1
[23]
p.S105Pc.313T>C
Turkish
homozygote
2/1
[8]
p.M120Kc.359T>A
Finnish
compound heterozygote with p.Y176X
4/2
[22]
p.A123Dc.368C>A
French Canadian
homozygote
1/1
[18]
Dominican (Canadian)
homozygote
1/1
This study
p.L150Pc.449T>C
Ashkenazi Jewish
compound heterozygote with p.N48K
1/1
[29]
p.I153_L154delinsM c.459_461del
Italian
homozygote
4/1
[22]
p.I168fsc.502_503insA
German
compound heterozygote with c.149_152delinsTGTCCAAT
3/1
[18]
p.Y176Xc.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.