Page 88 - 2020_07-Haematologica-web

O.Steinberg-Shemer et al.
Table 4. Genetics of Fanconi anemia in Israel.
# Gene
11 FANCA
8 FANCA
8 FANCA
5 FANCA
5 FANCA
3 FANCA
3 FANCA 2 FANCA
2 FANCA 1 FANCA
1 FANCA
1 FANCA
1 FANCA
1 FANCA
1 FANCA
1 FANCA
1 FANCA
1 FANCA
1 FANCA
Mutation 1
c.2172-2173 insG
(p. S725Vfs*69) (13) c.4261-2A>C (IVS43-2a>c) (14) c.3788-3790delTCT (25) 6-31
ex6-31 del (14)
ex21 del(26, 27)
c.4069-4070insT^
Mutation 2
c.2172-2173 insG
(p. S725Vfs*69) (13) c.4261-2A>C (IVS43-2a>c) (14) c.3788-3790delTCT(25)
ex6-31 del(14)
ex21 del(26, 27)
c.4069-4070insT^
Effect 1
frame shift splice site frame shift large deletion large deletion frame shift
Effect 2
frame shift splice site frame shift large deletion large deletion frame shift nonsense
deletion
missense
large
deletion frame shift frame shift missense
large
deletion frame shift large deletion nonsense
large
deletion large deletion splice site nonsense large deletion splice site nonsense deletion frame shift frame shift nonsense missense splice site missense missense nonsense Unknown
Ethnicities
Sephardic Jewish Arab Muslim Arab Christian Arab Druze Sephardic Jewish Arab Muslim Arab Muslim Arab Muslim Arab
Muslim
Sephardic
Jewish Arab Muslim mixed Jewish Sephardic Jewish Sephardic Jewish Ashkenazi Jewish mixed Jewish Sephardic Jewish Sephardic Jewish mixed Jewish Arab Muslim Arab Christian Arab Muslim Ashkenazi Jewish mixed Jewish Ashkenazi Jewish Arab Muslim mixed Jewish mixed Jewish Ethiopian Jewish Arab Muslim Arab Muslim Arab Muslim Arab Muslim Arab Muslim Arab Muslim mixed Jewish
p.Gln1128Ter(15) p.Gln1128T(15) nonsense
ex31-37del(15) 4275delT (p.Asp1427Thr fsX6) large
(13) deletion p.Pro1164Ser^ p.Pro1164Ser^ missense
c.2172-2173 insG
(p.S725Vfs*69) (13) c.4275delT (p.Asp1427Thr fsX6) (13)
c.4275delT (p.Asp1427Thr fsX6) (13)
c.65G>A (p.Trp22Ter) (25)
c.65G>A (p.Trp22Ter) (25)
c.891-893 delGCTG
(13)
c.2172-2173 insG (p.S725Vfs*69) (13)
c.891-893 delGCTG
(13)
ex15-21 del(28)
ex1-6 del (29)
deletion exons
4-7(8) c.2172-2173 insG (p.S725Vfs*69) (13) 4275delT (p.Asp1427Thr fsX6) (13)
c.65G>A (p.Trp22Ter) (25)
ex1-24del^
c.2172-2173 insG (p.S725Vfs*69) (13) ex1,2,4,5del^
c.65G>A (p.Trp22Ter) (25)
ex15-21 del(28)
ex1-6 del (29)
frame
shift frame shift frame shift missense
missense
frame shift frame shift frame shift large deletion large deletion splice site nonsense deletion splice site nonsense splice site frame shift nonsense nonsense missense splice site
Unknown splice site
Unknown
c.189+1G>A (IVS2+1 g>a) ^
p.Arg880Ter (30)
c.3520-3522 delTGG (25)
c. 456+4a>t (IVS4+4 a>t) (5)
p. Gln3Ter^
c. 456+4a>t (IVS4+4 a>t) (5)
c.6174delT(24)
c.7579delG (p.V2527X)^
c.1742C<G (p.Ser581Ter)^
c.212T>C (p. Leu71Pro)(32)
c.510+3A>G (IVS4+3 A>G) ^
p.Arg251Cys(33)
p.Arg848His(34)
p.Gln376Ter^
c. 456+4a>t (IVS4+4 a>t) (5)
Unknown
#: number of patients; ^: mutations not previously described; @: not included in the analyses.
1 FANCA 1 FANCA 1 FANCA 7 FANCC 2 FANCC 1 FANCC 1 FANCD1 1 FANCD1 6 FANCG 4 FANCG 3 FANCG 1 FANCJ 1 FANCJ
1 FANCJ
2 @ FANCC
4 @
c.2778+2T>C (IVS28+2 T>C) ^ p.Arg880Ter (30) c.1471-401_1626+395del ^
c. 456+4a>t (IVS4+4 a>t) (5) p. Gln3Ter^
del 97116249-97124749 (31) c.6174delT(24) c.9693delA (p.S3231fs16*)^ c.1742C<G (p.Ser581Ter)^ c.212T>C (p. Leu71Pro)(32) c.510+3A>G (IVS4+3 A>G) ^
p.Arg251Cys(33) missense p.Arg848His(34) missense p.Gln376Ter^ nonsense
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haematologica | 2020; 105(7)