Table 1.

USH2A truncating and splice-site mutations

Nucleotide change	Exon	Predicted effect	Predicted pathology	No. of alleles	References
Nonsense mutations
c.820C > T	5	p.R274X	+	2	Present study
c.1518T > A	8	p.Y506X	+	1	Bernal et al., 2005
c.3883C > T	18	p.R1295X	+	1	Dreyer et al., 2000
c.4474G > T	21	p.E1492X	+	2	Bernal et al., 2005
c.4645C > T	22	p.R1549X	+	1	Baux et al., 2007
c.7854G > C	41	p.W2618X	+	1	Present study
c.9753T > A	50	p.C3251X	+	2	Present study
c.10102C > T	51	p.Q3368Xa	+	1	Present study
c.10759C > T	55	p.Q3587X	+	2	Baux et al., 2007
c.11146C > T	57	p.Q3716X	+	1	Present study
c.14175G > A	65	P.W4725X	+	1	Present study
Deletions and insertions
c.918_919insGCTG	6	p.S307AfsX17	+	1	Present study
c.1214delA	7	p.N405IfsX3	+	5	Bernal et al., 2005
c.1629_1645del	10	p.F543LfsX2	+	1	Present study
c.2299delG	13	p.E767SfsX21	+	8	Eudy et al., 1998
c.5278delG	26	p.D1760MfsX10a	+	1	Present study
c.5540_5541dup	27	p.N1848X	+	1	Present study
c.6319_6324delinsTAAA	32	p.V2107X	+	1	Present study
c.8890dupT	45	p.W2964LfsX89	+	1	Present study
c.8954delG	45	p.G2985AfsX3	+	1	Present study
c.9261delT	47	p.E3088KfsX9	+	1	Present study
c.10272_10273dupTT	52	p.C3425FfsX4	+	1	Aller et al., 2006
c.11566delA	60	p.S3856VfsX28	+	1	Present study
c.12093delC	62	p.Y4031X	+	1	Present study
c.13140delA	63	p.V4381CfsX10	+	1	Present study
Splice-site mutations
c.1328 + 1G > T	IVS7	Ex7 splice defect	+	1	Present study
c.1841-2A > G	IVS10	Ex11 splice defect	+	2	Bernal et al., 2003
c.11548 + 2T > G	IVS59	Ex59 splice defect	+	1	Present study
c.12067-2A > G	IVS61	Ex62 splice defect	+	4	Auslender et al., 2008
c.15053-1G > A	IVS69	Ex70 splice defect	+	1	Present study

+: Denotes pathogenic mutations.

No. of alleles: Number of alleles identified in patients.

^aThese two mutations are allelic.

Novel pathogenic mutations described in this study are in bold.