A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome

Mohammad Bilal Alsavaf^{1

2}, Jeffrey M Verboon^{3

4

5}, Muhammet E Dogan⁶, Zehra Busra Azizoglu^{2

7}, Fatma Zehra Okus^{1

8}, Alper Ozcan¹, Munis Dundar⁶, Ahmet Eken^{2

7}, Hamiyet Donmez-Altuntas⁷, Vijay G Sankaran^{3

4

5}, Ekrem Unal^{1

2

9}

Affiliations

¹ Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
² Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.
³ Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
⁵ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁶ Department of Medical Genetic, Erciyes University, Kayseri, Turkey.
⁷ Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
⁸ University College of London, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK.
⁹ Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey.

Mohammad Bilal Alsavaf et al. Br J Haematol. 2022 Jun.

. 2022 Jun;197(6):e88-e93.

doi: 10.1111/bjh.18112. Epub 2022 Mar 17.

¹ Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
² Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.
³ Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
⁵ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁶ Department of Medical Genetic, Erciyes University, Kayseri, Turkey.
⁷ Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
⁸ University College of London, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK.
⁹ Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey.

No abstract available

References

1. Liggett LA, Sankaran VG. Unraveling hematopoiesis through the lens of genomics. Cell. 2020;182(6):1384-400. https://doi.org/10.1016/j.cell.2020.08.030
1. Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, et al. DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation. Am J Hum Genet. 2016;99(1):115-24.
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