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Table 2 Genetic results of RP patients included in the study

From: Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective 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)

  1. ID patient identification number, AD autosomal dominant, AR autosomal recessive