Chromosome 3q21 deletion and GATA2 gene mutation

Chromosome 3q21 deletion and GATA2 gene mutation can cause immunodeficiency and other problems leading to cancer.

The chromosomal segment 3q21 contains several genes, including the GATA2 gene. This gene encodes a zing finger transcription factor expressed in the precursors of several sorts of blood cells. Mutations of the GATA2 gene cause immunodeficiency and bone marrow failure including myelodysplastic syndrome which may progress to leukemia. Hematological problems may occur also in patients with deletions of this chromosomal segment. The authors report a 9-year-old girl with developmental delay, agenesis of the corpus callosum, heart defect (atrial septal defect and stenosis of the pulmonary valve), peripapillar chorioretinal lacunae, unilateral sensori-neural hearing loss and preaxial polydactyly of the left hand. She had a 6.0 Mb deletion 3q21.3q22.1, involving the GATA2 gene. Upon preparation to velo-palatal surgery she was found to have neutropenia, lymphopenia and mild thrombocytopenia. A myelodysplastic syndrome was diagnosed. An analysis of the literature showed other patients with deletions of this area who developed myelodysplastic syndrome. Additional symptoms in this girl could be explained by the involvement of other genes (at least 77 genes were lost in this deletion). Preaxial polydactyly (relatively rare birth defect) has been reported at least in one of previously described patients with such deletion. It should be noted that hematological problems may not be revealed upon the first examination of a child. Patients with deletions of this area involving loss of the GATA2 gene should be regularly examined by hematologists or oncologists.

Greenmyer J.R. et al. “3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome”. “Brit. J. Haematology” 2022, v. 196, p. 1120-1123.

Chromosome Disorder Outreach Inc. medical geneticist and medical advisor Dr. Iosif Lurie M.D. Ph.D examines newly published research studies to locate the most important and relevant for our members. Synopses of these articles are then posted to our website’s research pages. For more information on any article please contact info@chromodisorder.org