Molecular Vision: Isosomppi, Mol Vis 2009; 15:1806-1818. Table 1

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]
p.D55fs c.165delC	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]
p.A123D c.368C>A	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_152delinsTGTCCAAT	3/1	[8]