Research Article

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Table 3

Synopsis of molecular diagnostic on RP patients by IROme.

Pat
number
Total
seq
Mb
Read
length
bp
Median
fold
cvg
Total
seq
var
cds
seq
var
filt.
seq
var
prio.
seq
var
Test/val
seq
var
Potential
mutation
cvg
pot
mut
mut
reads
%
Cosegregate
family

14745321.312061145182/2p.C2ORF71-R571_P576del
p.FSCN2-P231S
38
25
55.3
44
M het norm
F het norm
247.643320.91217984472/2p.PDE6B-H337R
p.OTX2-G222R
21
52
100
48
?
?
342.241617.01085783961/1p.CLRN1-P134L1968.4?
444.639521.61173954253/3p.RHO-Y191C3938.5yes
524.442913.88941044511/1p.TULP1-F529_A530dup6100yes
631.742216.21039854711/1p.RHO-R252P2254.5?
720.128113.3789773842/2p.SAG-E11K
p.IMPG2-G684R
30
34
56.7
38.2
no
no
813.94459.1736703321/1p.RP2-D161Y2245.5yes
92929717.3832803991/1g.ABCA4-ex45-47del00yes
1037.344316.71247934633/3p.PROM1-R373C3250yes
1150.244021.51151924621/1p.RP2-E20X2867.8yes
1249.139423.81116943994/4p.CNGB1-R765C30100yes
133343614.61017853332/2p.GUCY2D-V887G1894.4yes
1432.644315.31205934231/1p.CRX-Q105X1758.8M het norm
1532.744214.21026864031/1p.USH2A-P2630R2540no
1669.443428.41246874111/1p.PRPF31-E183_ins33bp7440yes
1716.74529.8861824322/2p.PRPH2-L39P1850yes
1839.642917.21826853531/1
1966.544926.412981034552/2p.PRPH2-S217_dup16bp7139.4yes
2047.135819.81171914732/1p.C2ORF71-L889P2339.1?
214736317.311971024831/0
2236.635414.71072864522/1p.EYS-D2930G3860.5?
2353.339322.41164924075/5p.PRPF8-E2331X3844.7yes

For each patient, the total number of Mb (106 bp) sequenced on the Roche 454 GS Junior (total seq Mb) and the average read length (read length bp) are indicated. The median fold coverage (cvg) was extracted from the unique depth information. From all the sequence variants (total seq var), first only the sequence variants located in coding sequences were analyzed (cds seq var), with filtering (filt seq var) and prioritizing (prio seq var) according to Figure 2. The sequence variants eventually tested and validated by Sanger sequencing (test/val seq var) are also indicated. For each potential mutation, the coverage (cvg pot mut) and the percentage of sequence reads reporting the potential mutation (mut reads %) are indicated. For cosegregation analysis, “?” indicates absence of available family members and/or simplex cases. For patients 1 and 14, the mother (M) and/or the father (F) are healthy heterozygous carriers (het norm).