Resequencing of one of the patients with FANCD1 who was included in our manuscript (Table 4) July 2020 of Haematologica1 revealed that he was not homozygous to the common variant in this gene, but rather compound heterozygous to the variants c.5946del (p.Ser1982Argfs*22) and c.7007G>C (p.Arg2336Pro).
This resulted in changes in the Results section (Genetics part, pages 1,829-1,831 in the original paper), that should now read:
Thirty-five different mutations were found, including 22 in FANCA, four in FANCD1 and three each in FANCC, FANCD1, FANCG and FANCJ (Table 4); 75 patients were homozygous for mutations in Fanconi genes, and 13 patients were compound heterozygous; 33 different combinations of mutations were found (Table 4); 20 novel mutations were detected in the cohort, as detailed in the Online Supplementary Table S1; seven of these were previously reported by our group.13-15 The type of mutation varied, as detailed in Table 4. Twenty-five patients had frameshift mutations, 19 patients had splice site mutations, 15 patients had deletions, 13 patients had nonsense mutations, nine patients had missense mutations and seven patients had a combination of mutation types.
Corrected Table 4.Genetics of Fanconi anemia in Israel.
Footnotes
- Received July 29, 2024
- Accepted July 29, 2024
Correspondence
References
- Steinberg-Shemer O, Goldberg TA, Yacobovich J. Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population Haematologica. 2020; 105(7):1825-1834. https://doi.org/10.3324/haematol.2019.222877Google Scholar
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