A Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome.

Authors

Sezin Aydemir, Gözde Yeşil, Ayça Dilruba Aslanger, Süheyla Ocak, Funda Cipe, Salih Güler, Özgür Kaşapçopur, Esra Yücel, Ayça Kıykım

Published in

Pediatric allergy, immunology, and pulmonology. Pages 2151321X261466350. Jul 01, 2026. Epub Jul 01, 2026.

Abstract

Introduction:GATA binding protein 2 (GATA2) deficiency is an autosomal dominant disorder characterized by immunodeficiency, progressive cytopenias, and an increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Novel variants continue to broaden the clinical and genetic spectrum of this condition.Case Presentation:An 11-year-old girl presented with recalcitrant cutaneous warts, recurrent infections, and multilineage cytopenias. Her father had longstanding leukopenia and MDS that progressed to AML. Laboratory evaluation revealed monocytopenia, B- and Natural killer-cell lymphopenia, and dysplastic bone marrow findings. Genetic analysis identified a previously unreported heterozygous splice-site variant in GATA2 (c.1017 + 1 G > A), confirmed in stored DNA from her deceased father. Despite supportive care and allogeneic hematopoietic stem cell transplantation from a matched unrelated donor, she developed severe graft-versus-host disease and died from transplant-related complications.Conclusion:This report identifies a previously unreported GATA2 splice-site variant with clinical and familial evidence supporting pathogenicity, contributing to the expanding mutational spectrum and enhancing understanding of genotype-phenotype correlations in GATA2 deficiency.

PMID:
42384008
Bibliographic data and abstract were imported from PubMed on 01 Jul 2026.

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