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Table 5 Detection of novel 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 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.