Page 273 - Haematologica Vol. 110 - January 2025

ERRATUM
Corrected Table 4. Genetics of Fanconi anemia in Israel.
# Gene Mutation 1 Mutation 2 Effect 1 Effect 2 Ethnicities
11 FANCA c.2172-2173 insG (p. c.2172-2173 insG (p. frame shift frame shift Jewish Sephardic S725Vfs*69)13 S725Vfs*69)13
8 FANCA c.4261-2A>C (IVS43-2a>c)14 c.4261-2A>C (IVS43-2a>c)14 splice site splice site
Arab Muslim Arab Christian
8 FANCA c.3788-3790delTCT25 c.3788-3790delTCT25 frame shift frame shift
Arab Druze Jewish Sephardic
5 FANCA ex6-13 del14 ex6-13 del14 large deletion large deletion Arab Muslim
5 FANCA ex21 del26, 27 ex21 del26, 27 large deletion large deletion Arab Muslim
3 FANCA c.4069-4070insT^ c.4069-4070insT^ frame shift frame shift Arab Muslim
3 FANCA p.Gln1128Ter15 p.Gln1128T15 nonsense nonsense Arab Muslim
2 FANCA ex31-37del15 4275delT (p.Asp1427Thr large deletion deletion Jewish Sephardic fsX6)13
2 FANCA p.Pro1164Ser^ p.Pro1164Ser^ missense missense Arab Muslim
1 FANCA c.2172-2173 insG (p. deletion exons 4-78 frame shift large deletion Jewish mixed S725Vfs*69)13
1 FANCA c.4275delT (p.Asp1427Thr c.2172-2173 insG (p. frame shift frame shift Jewish Sephardic fsX6)13 S725Vfs*69)13
1 FANCA c.4275delT ( p.Asp1427Thr 4275delT (p.Asp1427Thr frame shift frame shift Jewish Sephardic fsX6)13 fsX6)13
1 FANCA c.65G>A (p.Trp22Ter)25 c.65G>A (p.Trp22Ter)25 missense missense Jewish Ashkenazi
1 FANCA c.65G>A (p.Trp22Ter)25 ex1-24del^ missense large deletion Jewish mixed
1 FANCA c.891-893 delGCTG13 c.2172-2173 insG (p. frame shift frame shift Jewish Sephardic S725Vfs*69)13
1 FANCA c.2172-2173 insG (p. ex1,2,4,5del^ frame shift large deletion Jewish Sephardic S725Vfs*69)13
1 FANCA c.891-893 delGCTG13 c.65G>A (p.Trp22Ter)25 frame shift nonsense Jewish mixed
1 FANCA ex15-21 del28 ex15-21 del28 large deletion large deletion Arab Muslim
1 FANCA ex1-6 del29 ex1-6 del29 large deletion large deletion Arab Christian
1 FANCA c.189+1G>A (IVS2+1 g>a)^ c.2778+2T>C (IVS28+2 splice site splice site Arab Muslim T>C)^
1 FANCA p.Arg880Ter30 p.Arg880Ter (30) nonsense nonsense Jewish Ashkenazi
1 FANCA c.3520-3522 delTGG25 c.1471-401_1626+395del^ deletion large deletion Jewish mixed
7 FANCC c. 456+4a>t (IVS4+4 a>t)5 c. 456+4a>t (IVS4+4 a>t)5 splice site splice site Jewish Ashkenazi
2 FANCC p. Gln3Ter^ p. Gln3Ter^ nonsense nonsense Arab Muslim
1 FANCC c. 456+4a>t (IVS4+4 a>t)5 del 97116249-9712474931 splice site deletion Jewish mixed
1 FANCD1 c.5946del c.7007G>C (p.Arg2336Pro) frame shift missense Jewish mixed (p.Ser1982Argfs*22)24
1 FANCD1 c.7579delG (p.V2527X)^ c.9693delA (p.S3231fs16*)^ nonsense frame shift Jewish Ethiopian
6 FANCG c.1742C<G (p.Ser581Ter)^ c.1742C<G (p.Ser581Ter)^ nonsense nonsense Arab Muslim
4 FANCG c.212T>C (p. Leu71Pro)32 c.212T>C (p. Leu71Pro)32 missense missense Arab Muslim
3 FANCG c.510+3A>G (IVS4+3 A>G)^ c.510+3A>G (IVS4+3 A>G)^ splice site splice site Arab Muslim
1 FANCJ p.Arg251Cys33 p.Arg251Cys33 missense missense Arab Muslim
1 FANCJ p.Arg848His34 p.Arg848His34 missense missense Arab Muslim
1 FANCJ p.Gln376Ter^ p.Gln376Ter^ nonsense nonsense Arab Muslim
2 @ FANCC c. 456+4a>t (IVS4+4 a>t)5 Unknown splice site Unknown Jewish mixed
4 @ Unknown Unknown
#: number of patients; ^: mutations not previously described; @: not included in the analyses; ref: reference number.
References
1. Steinberg-Shemer O, Goldberg TA, Yacobovich J, et al. Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population Haematologica 2020;105(7):1825-1834.
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