Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations
Abstract
:1. Introduction
2. Case Presentation
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
Abbreviation | Expansion | Abbreviation | Expansion |
ANC | Absolute neutrophil count | HSPC | Hematopoietic stem progenitor cells |
SAA | Severe aplastic anemia | MDS | Myelodysplastic syndrome |
CN-SGD | Congenital neutropenia with specific granulocyte deficiency | SCN | Severe congenital neutropenia |
G-CSF | Granulocyte Colony Stimulating Factor | SMARCD2 | SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2 |
HSCT | Hematopoietic stem cell transplant |
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Author | Case Number | Molecular Mutations within SMARCD2 Gene | ||
---|---|---|---|---|
Nucleotide Change | Protein Change | Location | ||
van der Schim et al. [2] | Case 1 | c.1181+1G>A | Ile362Cysfs*3 Ser394Argfs*1 Ile362Valfs*85 | Intron 9 |
Witzel et al. [1] | Case 2 | c.401+2T>C | p.Arg73Valfs*8 | Intron 2 |
Witzel et al. [1] | Case 3 and 4 | c.414_438dup | p.Gln147Glufs*5 | Exon 3 |
Yucels et al. [3] | Case 5 | c. 93del | p.Ala32Argfs*80 | Exon 1 |
Our case | Case 6 | c.217C>T c.1081del | p.Arg73* p.Gln361Argfs*15 | Exon 2 Exon 8 |
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Ibrahim, A.; Sharathkumar, A.; McLaughlin, H.; Claassen, D.; Bhagavathi, S. Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations. Hematol. Rep. 2022, 14, 270-275. https://doi.org/10.3390/hematolrep14030038
Ibrahim A, Sharathkumar A, McLaughlin H, Claassen D, Bhagavathi S. Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations. Hematology Reports. 2022; 14(3):270-275. https://doi.org/10.3390/hematolrep14030038
Chicago/Turabian StyleIbrahim, Abukhiran, Anjali Sharathkumar, Heather McLaughlin, David Claassen, and Sharathkumar Bhagavathi. 2022. "Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations" Hematology Reports 14, no. 3: 270-275. https://doi.org/10.3390/hematolrep14030038
APA StyleIbrahim, A., Sharathkumar, A., McLaughlin, H., Claassen, D., & Bhagavathi, S. (2022). Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations. Hematology Reports, 14(3), 270-275. https://doi.org/10.3390/hematolrep14030038