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

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

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

ISSN: 1750-1172