Skip to main content

Table 4 Detection of known mutations by using the novel genetic approach for retinal disorders

From: Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Index Phenotype Pre-screening Gene Mutation Allele State Read reference NGS Read variant NGS Reference Mutation verified by Sanger and co-segregation
CIC00019, F16 adRP Linkage, RHO, PRPF31, PRPH2, RP1 PRPF3 c.1481C > T
p.T494M
het 25 22 [67] yes
CIC0000893, F574 adRP RHO, PRPF31, PRPH2, RP1 NR2E3 c.166G > A
p.G56R
het 5 3 [68] yes
CIC000128, F100 arRP, consang. - EYS c.408_423del p.N137VfsX24 homo - 179 [13, 69] yes
CIC0000943, F100 arRP, consang - EYS c.408_423del p.N137VfsX24 homo 0 193 [13, 69] yes