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Table 3 Causative mutations and putative pathogenic variants identified in this study

From: Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Patient Clinical type Gene Exon Nucleotide variant Protein variant Reference Segregation analysis
Patients with two pathogenic mutations in the same gene
RP-807 USH2 MYO7A 40 c.5516 T > C p.Leu1839Pro Novel. UV3 Yes
MYO7A 27 c.3503G > A p.Arg1168Gln Novel. UV3  
RP-808 USH1 CDH23 47 c.6059-9G > A --- von Brederlow et al., (2002) [40] No
CDH23 10 c.871G > A p.Gly291Arg Novel. UV3  
RP-890 USH3 USH2A 26 c.5278delG p.Asp1760Metfs*10 Garcia-Garcia et al., (2011) [41] No
USH2A 26 c.5278delG p.Asp1760Metfs*10 Garcia-Garcia et al., (2011) [41]  
RP-1182 USH1 PCDH15 22_23 Duplication exons 22_23 --- Novel. UV4 No
PCDH15 22_23 Duplication exons 22_23 --- Novel. UV4  
RP-1183 USH1 CDH23 26 c.3016G > A p.Glu1006Lys Schultz et al., (2011) [42] No
CDH23 26 c.3016G > A p.Glu1006Lys Schultz et al., (2011) [42]  
RP-1234 USH1 MYO7A 43 c.5884delTTCT p.Phe1962Leufs*7 Novel. UV4 Yes
MYO7A 43 c.5884delTTCT p.Phe1962Leufs*7 Novel. UV4  
RP-1237 USH1 CDH23 46 c.6049G > A p.Gly2017Ser Roux et al., (2006) [43] No
CDH23 46 c.6049G > A p.Gly2017Ser Roux et al., (2006) [43]  
RP-1374 USH1 PCDH15 2 c.7C > T p.Arg3* Ahmed et al., (2001) [44] Yes
PCDH15 27 c.3717 + 2dupT --- Jaijo et al., (2012) [45]  
RP-1422 USH1 MYO7A 43 c.5944G > A p.Gly1982Arg Riazuddin et al., (2008) [46] Yes
MYO7A 43 c.5944G > A p.Gly1982Arg Riazuddin et al., (2008) [46]  
RP-1522 USH2 USH2A 13 c.2299delG p.Glu767Serfs*21 Liu et al., (1999) [47] No
USH2A 20 Deletion exon 20 --- Novel. UV4  
RP-1551 USH1 PCDH15 27 c.3511delA p.Asp1172Ilefs*13 Novel. UV4 Yes
PCDH15 27 c.3511delA p.Asp1172Ilefs*13 Novel. UV4  
RP-1614 USH1 MYO7A 44 c.6025delG p.Ala2009Profs*32 Bharadwaj et al., (2000) [48] No
MYO7A 40 c.5537C > A p.Pro1846His Novel. UV3  
RP-1760 USH2 USH2A 55 c.10888delA p.Gly3631Valfs*43 Novel. UV4 No
USH2A 13 c.2296 T > C p.Cys766Arg Glöcke et al., (2013) [35]  
RP-1781 USH2 CDH23 29 Duplication exon 29 --- Novel. UV4 No
CDH23 68 c.9569C > T p.Ala3190Val Novel. UV3  
RP-1791 USH1 MYO7A 20 c.2283-1G > T --- Roux et al., (2006) [43] Yes
MYO7A 28 c.3594C > A p.Cys1198* Roux et al., (2011) [43]  
RP-1802 USH2 USH2A 63 c.13811 + 2 T > G --- Besnard et al., (2014) [37] No
USH2A 50 c.9799 T > C p.Cys3267Arg Aller et al., (2006) [49]  
RP-1835 USH2 USH2A 57 c.11065C > T p.Arg3689* Le Quesne Stabej et al., 2012 [50] Yes
USH2A 22 c.4758 + 3A > G --- Novel. UV3  
RP-1864 USH2 MYO7A 6 c.494C > T p.Thr165Met Ouyang et al., (2005) [51] No
MYO7A 6 c.494C > T p.Thr165Met Ouyang et al., (2005) [51]  
RP-1895 USH2 GPR98 79_83 Duplication exons 79_83 --- Besnard et al., (2012) [52] No
GPR98 79_83 Duplication exons 79_83 --- Besnard et al., (2012) [52]  
RP-1904 USH2 GPR98 11 c.2145_2149delGTTTT p.Leu715Phefs*6 Novel. UV4 Yes
GPR98 14 c.2612delG p.Gly871Glufs*8 Novel. UV4  
RP-1910 USH1 CDH23 60 c.8722 + 1delG --- Oshima et al., (2008) [53] Yes
CDH23 60 c.8722 + 1delG --- Oshima et al., (2008) [53]  
RP-1924 USH1 MYO7A 39 c.5392C > T p.Gln1798* Janecke et al., (1999) [54] Yes
MYO7A 27 c.3503G > A p.Arg1168Gln Novel. UV3  
RP-1927 USH2 USH2A 21 c.4474G > T p.Glu1492* Bernal et al., (2005) [55] Yes
USH2A 2 c.269A > G p.Tyr90Cys Novel. UV3  
RP-1948 USH1 MYO7A 7 C.707 T > A p.Leu236Gln Novel. UV3 No
MYO7A 42 c.5749G > T p.Glu1917* Jacobson et al., (2009) [56]  
RP-1960 USH2 USH2A 25 c.5167G > C p.Gly1723Arg Novel. UV3 No
USH2A 7 c.1214delA p.Asn405Ilefs*3 Bernal et al., (2005) [55]  
Patients with three pathogenic mutations in two different genes
RP-1847 USH2 USH2A 62 c.12067-2A > C --- Kaiserman et al., (2007) [57] Yes
USH2A 14 Deletion exon 14 --- Glöckle et al., (2013) [35]  
USH1G 2 c.805C > T p.Arg269* Novel. UV4  
RP-1923 USH2 USH2A 62 c.12093delC p.Tyr4031* Garcia-Garcia et al., (2011) [41] No
USH2A 44 Deletion exon 44 --- Glöckle et al., (2013) [35]  
DFNB31 9 c.2234G > A p.Arg745His Novel. UV3  
Patients with only one pathogenic mutation
RP-1455 USH1 USH2A 28 c.5666A > G p.Asp1889Gly Novel. UV3 No
RP-1496 USH3 GPR98 19 c.3443G > A p.Gly1148Asp Novel. UV3 No
RP-1741 USH2 USH2A PE40 c.7592-2144A > G --- Vaché et al., (2012) [58] No
RP-1929 USH2 GPR98 58 c.11974G > A p.Asp3992Asn Novel. UV3 No
RP-1953 USH2 USH1C 18 c.1859G > T p.Arg620Leu Ouyang et al., (2002) [59] No
Patients with pathologic mutations in different genes
RP-1426 USH1 MYO7A 49 c.6610G > C p.Ala2204Pro Jaijo et al., (2007) [60] Yes
CDH23 39 c.5068-2A > T --- Novel. UV4  
RP-1950 USH2 USH2A 70 c.2299delG p.Glu767Serfs*21 Liu et al., (1999) [47] No
GPR98 70 c.14278C > T p.Pro4760Ser Novel. UV3  
  1. Patients previously included in the test group are marked with ¶.
  2. Novel variants are marked in bold.
  3. PE: Pseudoexon 40.