Table 1 Persons with Stargardt disease (STGD1) carrying two pathogenic ABCA4 alleles

From: Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Patient_ID

Gender

Age at onset (years)

Segregation confirmed

Allele1 DNA

Allele1 protein

Allele 2 DNA

Allele 2 protein

A-I:2

F

38

Yes

c.1822T>A

p.(Phe608Ile)

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*3; Asn1868Ile]b

B-I:2

F

10

Yes

c.768G>T

p.(Leu257Valfs*17)c

c.859-506G>C

p.[Phe287Thrfs*32, =]b

C-I:2

F

48

Yes

c.768G>T

p.(Leu257Valfs*17)c

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*3; Asn1868Ile]b

D-III:1

M

45

Yes

c.4363T>C

p.(Cys1455Arg)

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

E-II:1

F

7

Yes

c.[818G>A; 5603A>T]

p.[Trp273*; Asn1868Ile]

c.4539+1100A>G

p.[Arg1514Valfs*31, Arg1514Glyfs*3, =]b

F-II:2

F

20

Yes

c.1822T>A

p.(Phe608Ile)

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

G-I:2

F

51

Yes

c.1822T>A

p.(Phe608Ile)

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

H-I:2

F

53

Yes

c.[5461-10T>C; 5603A>T]

p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile]

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

I-II:3

F

44

Yes

c.4577C>T

p.(Thr1526Met)

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*3; Asn1868Ile]b

J-II:3

M

61

Yes

c.768G>T

p.(Leu257Valfs*17)c

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

K-II:1

M

62

Yes

c.6155del

p.(Asn2052Thrfs*9)

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*; Asn1868Ile]b

L-II:1

M

61

Yes

c.[5461-10T>C; 5603A>T]

p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile]

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*; Asn1868Ile]b

M-II:1

M

18

Yes

c.4539+2001G>A

p.[=, Arg1514Leufs*36]d

c.[4253+43G>A; 5603A>T]

p.[=, Ile1377Hisfs*3; Asn1868Ile]b

N-II:3

M

31

Yes

c.4773+1G>A

p.(?)

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

O-I:1

M

49

Yes

c.3113C>T

p.(Ala1038Val)

c.859-506G>C

p.[Phe287Thrfs*32, =]b

P-II:3

F

4

Yes

c.5196+1137G>A

p.[Met1733Glufs*78, =]e

c.859-506G>C

p.[Phe287Thrfs*32, =]b

Q-II:1

M

69

Yes

c.4539+1G>T

p.(?)

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*3; Asn1868Ile]b

R-II:1

M

52

n.t.

c.4539+1G>T

p.(?)

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

S-II:1

F

64

n.t.

c.768G>T

p.(Leu257Valfs*17)c

c.[769-784C>T; 5603A>T]

p.[=, Leu257Aspfs*3; Asn1868Ile]b

T-II:1

F

35

Yes

c.[2588G>C; 5603A>T]

p.[Gly863Ala, Gly863del; Asn1868Ile]

c.1937+435C>G

p.[=, Ser646Serfs*25]b

U-II:1

M

9

n.t.

c.768G>T

p.(Leu257Valfs*17)c

c.1937+435C>G

p.[=, Ser646Serfs*25]b

V-II:1

F

15

n.t.

c.[2588G>C; 5603A>T]

p.[Gly863Ala, Gly863del; Asn1868Ile]

c.4539+1100A>G

p.[Arg1514Valfs*31, Arg1514Glyfs*3, =]b

W-II:1

n.a.

11a

n.t.

c.[1622T>C; 3113C>T]

p.[Leu541Pro; Ala1038Val]

c.4539+1106C>T

p.[Arg1514Valfs*31, Arg1514Glyfs*3]b

X-II:1

n.a.

52a

n.t.

c.4469G>A

p.(Cys1490Tyr)

c.[4253+43G>A; 6006-609T>A]

p.[=, Ile1377Hisfs*3]b

  1. n.t., not tested
  2. aUnknown age of onset. Current age
  3. bPredicted based on densitometry percentages in this study based on the method described in Sangermano et al.30
  4. cEffect based on Sangermano et al.30
  5. dEffect based on Albert et al.22
  6. ePredicted based on Braun et al.21
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