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Table 1 Test group: patients carrying sequence variants in USH genes previously detected

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

Patient Clinical type Gene Type variant Nucleotide Protein Classification
RP-808 USH1 CDH23 Intronic c.6059-9G > A ----- Pathogenic. UV4
USH1G Missense c.387A > G p.Lys130Glu UV1
USH1G Missense c.423G > A p.Glu142Lys UV2
RP-1145 USH2 USH2A Frameshift duplication c.10272-10274dup p.Cys3425Phefs*4 Pathogenic. UV4
USH2A Nonsense c.7854G > A p.Trp2618* Pathogenic. UV4
DFNB31 Isocoding c.117G > A p.Val39Val UV1
RP-1286§ USH1 PCDH15 Frameshift insertion c.1304_1305insC p.Thr436Tyrfs*12 Pathogenic. UV4
RP-1374 USH1 PCDH15 Nonsense c.7C > T p.Arg3* Pathogenic. UV4
RP-1426 USH1 MYO7A Missense c.6610G > C p.Ala2204Pro Pathogenic
RP-1522 USH2 USH2A Frameshift deletion c.2299delG p.Glu767Serfs*21 Pathogenic. UV4
CDH23 Missense c.1096G > A p.Ala366Thr UV2
RP-1608§ USH3 USH2A Missense c.9799 T > C p.Cys3267Arg Pathogenic. UV4
RP-1614 USH1 MYO7A Frameshift deletion c.6025delG p.Ala2009Profs*32 Pathogenic. UV4
RP-1637 USH2 USH2A Frameshift duplication c.5540dupA p.Asn1848Glufs*20 Pathogenic. UV4
USH2A Large deletion Del IVS4_IVS9 p.Gly262Valfs*2 Pathogenic. UV4
RP-1757§ Atypical MYO7A In-frame deletion c.655_660del p.Ile219_His220del Pathogenic. UV4
RP-1760 USH2 USH2A Missense c.2296 T > C p.Cys766Arg UV3
  1. Samples that failed in the amplification process are marked with §.