TABLE 2.
Patients in which only one pathogenic variant in a recessive gene has been identified.
| Family | Patient | Clinic diagnosis | Gene | Nucleotide change | Protein change | Zygosity | References |
| FRPN-2431 | RPN-645 | RP | USH2A (NM_206933.4) | c.2276G > T | p.(Cys759Phe) | heterozygous | Rivolta et al., 2000 |
| CEP290 (NM_025114.4) | c.7394_7395del | p.(Glu2465Valfs*2) | heterozygous | This study | |||
| FRPN-2721 | RPN-678 | STG | ABCA4 (NM_000350.3) | c.288C > A | p.(Asn96Lys) | heterozygous | Stenirri et al., 2004 |
| USH2A (NM_206933.4) | c.754G > T | p.(Gly252Cys) | heterozygous | Bravo-Gil et al., 2016 | |||
| FRPN-2831 | RPN-691 | RP Punctata albensces | CDHR1 (NM_033100.3) | c.783G > A | (p.Pro261 =) | heterozygous | Glockle et al., 2014 |
| POC1B (NM_172240.3) | c.1079_1080del | p.(Pro360Argfs*8) | heterozygous | This study | |||
| FRPN-2871 | RPN-695 | NA | ABCA4 (NM_000350.3) | c.6089G > A | p.(Arg2030Gln) | heterozygous | Lewis et al., 1999 |
| FRPN-2881 | RPN-696 | NA | ABCA4 (NM_000350.3) | c.6148G > C | p.(Val2050Leu) | heterozygous | Allikmets et al., 1997 |
| FRPN-3041 | RPN-712 | RP | RPGRIP1 (NM_020366.3) | c.3339 + 5G > C | p.? | heterozygous | This study |
| FRPN-3051 | RPN-713 | RP | SAG (NM_000541.5) | c.577C > T | p.(Arg193*) | heterozygous | Maw et al., 1998 |
| GUCY2D (NM_000180.4) | c.1991A > G | p.(His664Arg) | heterozygous | This study | |||
| FRPN-3082 | RPN-717 | RP | ABCA4 (NM_000350.3) | c.6148G > C | p.(Val2050Leu) | heterozygous | Allikmets et al., 1997 |
| FRPN-3112 | RPN-720 | RP (early onset) | RPGRIP1 (NM_020366.3) | c.767C > G | p.(Ser256*) | heterozygous | Jamshidi et al., 2019 |
| FRPN-3132 | RPN-722 | RP | RBP3 (NM_002900.3) | c.3238G > A | p.(Asp1080Asn) | heterozygous | den Hollander et al., 2009 |
| FRPN-3142 | RPN-724 | RP | EYS (NM_001142800.2) | c.6882_6883del | p.(Gln2294Hisfs*3) | heterozygous | This study |
| FRPN-3192 | RPN-729 | RP | CNGA3 (NM_001298.3) | c.673 + 5G > T | p.? | heterozygous | This study |
| FRPN-3362 | RPN-746 | MD | PCARE (NM_001271441.2) | c.656_665dup | p.(Ala223Argfs*38) | heterozygous | This study |
Novel pathogenic variants identified are highlighted in bold font.
FRPN, family number; FRPN-“1,” families studied with PV1; FRPN-“2,” families studied with PV2; RPN, patient number; RP, retinitis pigmentosa; STG, stargardt; NA, not available; p.?, unknown protein effect; SNHL, sensorineural hearing loss; XL, X-linked. The “*” symbol corresponds to: stop-codon according to the format of mutations nomenclature from the Human Genome Variation Society (HGVS).