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