Table 1 Pathogenic variants identified in this study.

From: Genetic spectrum of retinal dystrophies in Tunisia

Family

ID

Disease

Genotyping

Method

Size of homozygous region, in Mb

Chr

Gene

DNA pathogenic variant

Predicted protein variant

Reference sequence

Previously reported

SIFT

PolyPhen

F1

LCA

WES

–

14q11.2

RPGRIP1

c.[3113-3114delCT];[3113-3114delCT]

p.[T1038Rfs*8]; T1038Rfs*8]

NM_020366

This study

–

–

F2

LCA

IROme

–

17p31.1

GUCY2D

c.[2660 T > G];[2660 T > G]

p.[V887G];[V887G]

NM_000180

This study

and6

0

0.999

F3

LCA

Asper

–

1p31.3

RPE65

c.[700C > T];[700C > T]

p.[R234*];[R234*]

NM_000329

29

–

–

F4

LCA

WES

–

3q13.33

IQCB1

c.[994C > T];[994C > T]

p.[R332*];[R332*]

NM_001023570

30

–

–

F5

LCA

WES

–

1q31.3

CRB1

c.[3542 + 1G > A];[3542 + 1G > A]

–

NM_201253.2

This study

–

–

F6

CRD

WES

40

1q31.3

CRB1

c.[2506C > A];[2506C > A]

p.[P836T];[P836T]

NM_201253.2

31

0.04

0.999

F7

CRD

WES

124

1q31.3

CRB1

c.[ 2105A > G];[ 2105A > G]

p.[Y702C];[Y702C]

NM_201253.2

32

0

0.89

F8

CRD

WES

–

10q23.1

CDHR1

c.[863-2_863-1delAG];[863-2_863-1delAG]

–

NM_033100

This study

–

–

F9

CRD

WES

–

8q22.1

C8ORF37

c.[470 + 1G > T];[470 + 1G > T]

–

NM_177965

This study

–

–

F10

CRD

WES

–

2p23.2

C2ORF71

c.[2756_2768del13];[ 2756_2768del13]

p.[K919Tfs*2];[ K919Tfs*2]

NM_001029883

33

–

–

F11

CRD

WES

35

1p22.1

ABCA4

c.[1916A > G];[1916A > G]

p.[Y639C];[Y639C]

NM_000350.2

This study

0.01

1

F12

RP

WES

77

1p22.1

ABCA4

c.[4139C > T];[4139C > T]

p.[P1380L];[P1380L]

NM_000350.2

34

0

0.716

F13

STGD

WES

–

1p22.1

ABCA4

c.[1140 T > A];[1140 T > A]

p.[N380K];[N380K]

NM_000350.2

35

0.01

0.05

F14

STGD

WES

–

1p22.1

ABCA4

c.[3259G > A];[3259G > A]

p.[E1087K]; [E1087K]

NM_000350.2

36

0

0.999

F15

CRD/STGD

WES

–

1p22.1

ABCA4

c.[3259G > A];[3259G > A]

p.[E1087K]; [E1087K]

NM_000350.2

36

0

0.999

F16

RP

WES

–

1p36.22

NMNAT1

c.[37G > A];[37G > A]

p.[A13T];[A13T]

NM_001297778.1

8

0

1

F17

RP

WES

–

6p21.1

PRPH2

c.[133C > T];[ =]

p.[L45F];[ =]

NM_000322

37

0

0.991

F18

RP

WES

–

2p15

FAM161A

c.[685C > T];[685C > T]

p.[R229*];[R229*]

NM_001201543

38

–

–

F19

RP

WES

–

16q21

CNGB1

c.[2293C > T];[2293C > T]

p.[R765C];[R765C]

NM_001297

This study

and 6

0

0.999

F20

RP

WES

–

6q12

EYS

c.(1766 + 1_1767-1)_(2023 + 1_2024-1)del

–

NM_001292009

39

–

–

F21

RP

WES

–

6q12

EYS

c.[5928-2A > G];[5928-2A > G]

–

NM_001292009

9

–

–

F22

SBB

WES

–

2q31.1

BBS5

c.[214G > A];[214G > A]

p.[G72S];[G72S]

NM_152384.2

40

0

1

F23

SBB

WES

48

2q31.1

BBS5

c.[123delA];[123delA]

p.[G42Efs*11];[ G42Efs*11]

NM_152384.2

41

–

–

F24

ACHM

WES

119

2q11.2

CNGA3

c.[1114C > T];[1114C > T]

p.[P372S];[P372S]

NM_001298.2

42

0

0.989

F25

ACHM

WES

87c

8q21.3

CNGB3

c.[1810C > T];[1810C > T]

p.[R604*];[R604*]

NM_019098.4

43

–

–

F26

CSNB

WES

–

15q13.3

TRPM1

c.[3947 T > G];[3947 T > G]

p.[L1316R];[L1316R]

NM_002420.5

This study

0

0.075

  1. Genes highlighted in bold harbor the novel pathogenic variants identified in this study.
  2. LCA = Leber congenital amaurosis; RP = retinitis pigmentosa; CRD = cone-rod dystrophy; STGD = Stargardt disease; BBS = Bardet–Biedl syndrome; ACHM = Achromatopsia; CSNB = congenital stationary night blindness.
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