Table 4 of
van Huet, Mol Vis 2015; 21:461-476. Table 4 of
van Huet, Mol Vis 2015; 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 | |||