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. 2015 Apr 28;21:461–476.

Table 4. Results of genetic analyses other than the microarray chip for autosomal recessive RP in this study cohort.

Gene name Method N Results Molecular diagnosis
Multiple
Targeted NGS on 160 blindness genes
2
Heterozygous mutation in dominant gene
 
PRPF31
c.18G>C; p.Glu6Asp
PRPF31-associated dominant RP
BEST
c.682G>C; p
BEST-associated dominant RP
9
Homozygous or compound heterozygous mutations
 
CNGB1
c.413–1G>A; splicing
CNGB1-associated recessive RP
CRX
c.205C>T; p.Arg69Cys
CRX-associated recessive RP
EYS
c.7919G>A; p.Trp2640*
EYS-associated recessive RP
PDE6B
c.2193+1G>A; splicing
c.1923_1971delinsTCTGGGTA; p.Asn643fs
PDE6B-associated recessive RP
PDE6B
c.1189G>A; p.Gly397Arg c.1859A>G; p.His620Arg
PDE6B-associated recessive RP
IMPG2
c.513T>G; p.Tyr171* c.2716C>T; p.Arg906*
IMPG2-associated recessive RP
TTC8
c.1363C>A; p.Gln455Lys
TTC8-associated recessive RP
PRCD
c.2T>C; p.Met1?
c.64C>T; p.Arg22*
PRCD-associated recessive RP
USH2A
c.6722C>T; p.Pro2241Leu c.13316C>T; p.Thr4439Ile
USH2A-associated recessive RP
1
Hemizygous mutation in RPGR
 
RPGR
c.485_486del; p.Phe162fs
RPGR-associated X-linked RP
1
Heterozygous mutation in recessive gene
 
USH2A
c.10510C>G; p.Pro3504Ala
N/A
3
No mutations identified
N/A
Autosomal dominant RP microarray (APEX)
2
Heterozygous mutation in dominant gene
 
PRPF31
c.553G>T; p.Glu185*
PRPF31-associated dominant RP
GUCY2D
c.2512C>T; p.Arg838Cys
GUCY2D-associated autosomal dominant cone-rod dystrophy
11
No mutations identified
N/A
LCA microarray (APEX)
4
No mutations identified
N/A
BBS microarray (APEX)
3
No mutations identified
N/A
Usher syndrome microarray (APEX)
4
No mutations identified
N/A
ABCA4
Sanger sequencing
7
Homozygous or compound heterozygous mutations
 
ABCA4
c.5882G>A; p.Gly1961Glu
ABCA4-associated recessive retinal dystrophy
c.3602T>G; p.Leu1201Arg c.6320G>A; p.Arg2107His
c.5461–10T>C; splicing
c.6155del; p.Asn2052fs
c.4469G>A; p.Cys1490Tyr
c.5056G>A; p.Val1686Met
c.6730–19G>A; splicing
c.6658C>T; p.Gln2220*
c.1622T>C; p.Leu541Pro c.3113C>T; p.Ala1038Val
(both homozygously present)
6
Heterozygous mutations
 
ABCA4
c.1411G>A; p.Glu471Lys (2x)
Carrier of ABCA4 mutation
c.3899G>A; p.Arg1300Gln
c.4283C>T; p.Thr1428Met
c.5882G>A; p.Gly1961Glu
c.5908C>T; p.Leu1970Phe
50
No mutations identified
N/A
Microarray (APEX)
4
No mutation identified
N/A
BBS1
Sanger sequencing
1
Homozygous mutation
 
BBS1
c.1169T>G; p.Met390Arg
BBS1-associated recessive RP
CHM
Sanger sequencing
1
Hemizygous mutation
 
CHM
c.50-?_116+?del; deletion of exon 2
Choroideremia
2
No mutations identified
N/A
CNGA3
Sanger sequencing
1
No mutations identified
N/A
CNGB3
Sanger sequencing
3
No mutations identified
N/A
CRB1
Sanger sequencing
3
No mutations identified
N/A
EYS
Sanger sequencing
1
Homozygous mutation
 
EYS
c.6714del; p.Ile2239fs
EYS-associated recessive RP
FAM161A
Sanger sequencing
1
Compound heterozygous mutations
 
FAM161A
c.1309A>T; p.Arg437*
c.1501del; p.Cys501fs
FAM161A-associated recessive RP
KCNV2
Sanger sequencing
1
No mutations identified
N/A
MERTK
Sanger sequencing
1
Homozygous mutation
 
MERTK
c.1179dup; p.Leu394fs
MERKT-associated recessive RP
NR2E3
Sanger sequencing
1
Compound heterozygous mutations
 
NR2E3
c.119–57_166del; frameshift c.1095C>G; splicing
NR2E3-associated recessive RP
PDE6A
Sanger sequencing
2
No mutations identified
N/A
PDE6C
Sanger sequencing
1
No mutations identified
N/A
PRPH2
Sanger sequencing
1
Heterozygous mutations
 
PRPH2
c.424C>T; p.Arg142Trp
PRPH2-associated dominant RP
RHO
Sanger sequencing
1
Homozygous mutation
 
RHO
c.759G>T; p.Met253Ile
RHO-associated recessive RP
RP1
Sanger sequencing
1
Homozygous mutation
 
RP1
c.686del; p.Pro229fs
RP1-associated recessive RP
RPE65
Sanger sequencing
1
Heterozygous mutation
 
RPE65
c.11+5G>A; splicing
Carrier of RPE65 mutation
RPGR
Sanger sequencing
1
Hemizygous mutation
 
RPGR
c.2993_2996del; p.Glu998fs
RPGR-associated X-linked RP
TRPM1 Sanger sequencing 1 Compound heterozygous mutations
 
TRPM1 c.1–27C>T; UTR 5′expressing defect
c.2998C>T; p.Arg1000* Congenitcal stationary night blindness type 1C

* indicates a premature stop; fs=frameshift; UTR=untranslated region