Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines
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Published on: June 15, 2011
Michelle A E Brouwer1, Arie Arensman2, H Rob Taal3
1Department of Clinical Chemistry and Haematology Amphia Hospital Breda the Netherlands.
Introduction:
Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early-onset life-threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene.
Methods:
Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Results:
Postnatally, she suffered from infections, pneumonia, cholestasis, mucocutaneous bleeding, and dysmorphic features, including clubfoot. Hematological findings included neutropenia, monocytosis, myelodysplasia, and thrombocytopenia. In contrast to previous cases, this patient presented with dysplasia of all myeloid lineages, including hypogranular neutrophils, pseudo Pelger-Huët, macrothrombocytes, bilobular monocytes, and dysplastic erythroblasts. Due to the severity of her condition, she passed away after 1.5 months.
Conclusion:
This report illustrates the role of SMARCD2 in hematopoiesis and provides an overview of all previously described SGD2 patients.
Trial Registration:
The authors have confirmed clinical trial registration is not needed for this submission.
Insights
Specific granule deficiency type II (SGD2), a rare genetic disorder, is caused by mutations in the SMARCD2 gene. This case highlights a novel mutation and its severe impact on hematopoiesis, leading to early-onset infections and death.
Area of Science:
- Genetics
- Hematology
- Immunology
Background:
- Specific granule deficiency type II (SGD2) is a rare congenital disorder.
- It is characterized by severe, early-onset infections.
- SGD2 results from autosomal recessive mutations in the SMARCD2 gene.
Purpose of the Study:
- To report a novel homozygous nonsense mutation in the SMARCD2 gene in a patient with SGD2.
- To describe the clinical and hematological features of this patient.
- To illustrate the role of SMARCD2 in hematopoiesis and review existing literature on SGD2.
Main Methods:
- Genetic analysis to identify a novel SMARCD2 mutation.
- Clinical observation and hematological assessment of the patient.
- Literature review of previously reported SGD2 cases.
Main Results:
- A novel homozygous nonsense mutation (c.208C>T, p.Gln70*) in SMARCD2 was identified.
- The patient exhibited severe infections, pneumonia, cholestasis, bleeding, and dysmorphic features.
- Hematological findings included neutropenia, myelodysplasia, and dysplasia across all myeloid lineages.
Conclusions:
- SMARCD2 plays a critical role in normal hematopoiesis.
- This case expands the mutational spectrum and clinical presentation of SGD2.
- Comprehensive understanding of SMARCD2 function is crucial for managing this rare disease.
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