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

Table 5 Detection of novel mutations by using the novel genetic approach for retinal disorders

Index	Phenotype	Pre-screening	Gene	Mutation	Allele State	Read reference NGS	Read variant NGS	Mutation verified by Sanger and co-segregation	Conservation	Polyphen	Sift
CIC00707, F470	adCSNB and Best see Table 3	RHO, PDE6B, GNAT1	*TRPM1*	c.1961A > C p.H654P	het	39	38	yes	moderately conserved	possibly damaging	tolerated
CIC000348, F232	adRP, mild	RHO, PRPF31, PRPH2, RP1, adRP chip	*PRPF8*	c.6992A > G p.E2331G	het	13	10	yes	moderately conserved	possibly damaging	affect protein function
CIC000346, F232	adRP	-	PRPF8	c.6992A > G p.E2331G	het	5	9	yes	moderately conserved	possibly damaging	affect protein function
CIC000347, F232	as adRP	-	PRPF8	c.6992A > G p.E2331G	het	15	17	yes	moderately conserved	possibly damaging	affect protein function
CIC04240, F2025	arRP, consang., detailed clinic in [70]	RS1	*CRB1*	c.2219C > T p.S740F	homo	2	194	yes	highly conserved	probably damaging	affect protein function
CIC00199, F146	adRP or x-linked RP with affected carrier	RHO, PRPF31, PRPH2, RP1, adRP chip	*RPGR*	c.248-2A > G splice defect	hetero	30	22	yes	conserved splice site	n.a.	n.a.
CIC04094, F1915	icCSNB	-	*CACNA1F*	c.973C > T p.Q325X	hemi	0	28	yes	n.a.	n.a.	n.a.

ISSN: 1750-1172