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A novel 3q interstitial deletion including GATA2 and ZNF148: A case report.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63621. Date of Electronic Publication: 2024 Apr 03. - Publication Year :
- 2024
-
Abstract
- GATA2 and ZNF148 have both been mapped to chromosome 3q. Pathogenic variants in GATA2 have been associated with immunodeficiency and high risk for myelodysplasia, acute myeloid leukemia, and chronic myelomonocytic leukemia. Gain-of-function variants in ZNF148 have previously been suggested as a mechanism for agenesis of the corpus callosum (ACC). Here, we report a novel 10.4 Mb interstitial deletion on 3q12.33q22.1 including GATA2 and ZNF148 in a child with developmental delay, agenesis of the corpus callosum, and vertebral segmentation defects. With this diagnosis, we were able to suggest preemptive referrals to hematology/oncology and allergy/immunology for close monitoring of early myelodysplasia. We also propose a possible link between ZNF148 loss of function variants and ACC.<br /> (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
- Subjects :
- Humans
Male
DNA-Binding Proteins genetics
Agenesis of Corpus Callosum genetics
Agenesis of Corpus Callosum pathology
Female
Developmental Disabilities genetics
Developmental Disabilities pathology
GATA2 Transcription Factor genetics
Chromosome Deletion
Chromosomes, Human, Pair 3 genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 194
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 38567931
- Full Text :
- https://doi.org/10.1002/ajmg.a.63621