Page 272 - Haematologica Vol. 110 - January 2025

ERRATUM
Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in
a multi-ethnic population
Orna Steinberg-Shemer,1,2,3* Tracie A. Goldberg,1* Joanne Yacobovich,1,2 Carina Levin,4,5 Ariel Koren,4,5 Shoshana Revel-Vilk,6 Tal Ben-Ami,7 Amir A. Kuperman,8,9 Vered Shkalim Zemer,1,2 Amos Toren,2,10 Joseph Kapelushnik,11 Ayelet Ben-Barak,12 Hagit Miskin,6 Tanya Krasnov,3 Sharon Noy-Lotan,3 Orly Dgany3 and Hannah Tamary1,2,3
1Department of Hematology-Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva; 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv; 3Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Petach Tikva; 4Pediatric Hematology Unit, Emek Medical Center, Afula; 5The Ruth and Bruce Rappaport Faculty of Medicine, Technion- Israel Institute of Technology, Haifa; 6Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Jerusalem, affiliated with Hadassah- Hebrew University Medical School, Jerusalem; 7Pediatric Hematology Unit, Kaplan Medical Center, Rehovot; 8Blood Coagulation Service and Pediatric Hematology Clinic, Galilee Medical Center, Nahariya; 9Azrieli Faculty of Medicine, Bar-Ilan University, Safed; 10Department of Pediatric Hemato-Oncology, The Edmond and Lily Safra Children Hospital, Sheba Medical Center, Tel-Hashomer; 11Pediatric Hematology, Soroka University Medical Center, Ben-Gurion University, Beer Sheva and 12Pediatric Hematology-Oncology Department, Rambam Medical Center, Haifa, Israel
Resequencing of one of the patients with FANCD1 who was included in our manuscript (Table 4) July 2020 of Haemato- logica1 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 com- pound 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 mu- tations and seven patients had a combination of mutation types.
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Correspondence: O. Steinberg-Shemer orna.steinberg@gmail.com
Received: July 29, 2024. Accepted: July 29, 2024.
https://doi.org/10.3324/haematol.2024.286363
©2025 Ferrata Storti Foundation Published under a CC BY-NC license