Table 2 Genetic results of RP patients included in the study
Family | ID | Sex | Age ranges at baseline | Gene | Transmission | Allele 1 Nucleotide; Amino acid | Allele 2 Nucleotide; Amino acid |
|---|---|---|---|---|---|---|---|
1 | 1 | M | 50–55 | – | AR | – | – |
2 | M | 45–50 | – | AR | – | – | |
2 | 3 | F | 40–45 | USH2A | AR | – | – |
4 | M | 35–40 | USH2A | AR | – | – | |
3 | 5 | M | 20–25 | – | – | – | – |
6 | M | 25–30 | – | – | – | – | |
4 | 7 | F | 65–70 | – | AR | – | – |
8 | F | 70–74 | – | AR | – | – | |
5 | 9 | F | 20–25 | USH2A | AR | c.1841-2A > G | – |
10 | F | 30–35 | USH2A | AR | c.1841-2A > G | – | |
6 | 11 | F | 50–55 | USH2A | AR | c.1412_1415dup; p.(Asn472Lysfs*2) | c.4124C > T; p.(Ser1375Leu) |
12 | M | 50–55 | USH2A | AR | c.1412_1415dup; p.(Asn472Lysfs*2) | c.4124C > T; p.(Ser1375Leu) | |
7 | 13 | F | 45–50 | NR2E3 | AD | c.166G > A; p.(Gly56Arg) | – |
14 | F | 50–55 | NR2E3 | AD | c.166G > A; p.(Gly56Arg) | – | |
15 | F | 45–50 | NR2E3 | AD | c.166G > A; p.(Gly56Arg) | – | |
16 | F | 45–50 | NR2E3 | AD | c.166G > A; p.(Gly56Arg) | – | |
8 | 17 | M | 55–60 | – | AR | – | – |
18 | F | 50–55 | – | AR | – | – | |
9 | 19 | M | 25–30 | USH2A | AR | c.299del; p.(Glu767Serfs*21) | – |
20 | F | 35–40 | USH2A | AR | c.299del; p.(Glu767Serfs*21) | – | |
10 | 21 | M | 20–25 | PRPF8 | AD | c.7007G > C; p.(*2336Serext*41) | – |
22 | F | 20–25 | PRPF8 | AD | c.7007G > C; p.(*2336Serext*41) | – | |
23 | F | 25–30 | PRPF8 | AD | c.7007G > C; p.(*2336Serext*41) | – | |
11 | 24 | F | 35–40 | USH2A | AR | c.5776 + 1G > A | c.4758 + 3787_c.6325 + 9314del |
25 | F | 45–50 | USH2A | AR | c.5776 + 1G > A | c.4758 + 3787_c.6325 + 9314del | |
12 | 26 | F | 50–55 | CNGB1 | AR | c.827_834del; p.(Ile276Thrfs*4) | c.2957A > T; p.(Asn986Ile) |
27 | F | 45–50 | CNGB1 | AR | c.827_834del; p.(Ile276Thrfs*4) | c.2957A > T; p.(Asn986Ile) |