Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Haploinsufficiency of GATA2 caused by heterozygous loss-of-function mutations is associated with cytopenias and predisposition to myelodysplasia and AML with other variable extrahematopoietic manifestions, including lymphedema, pulmonary alveolar proteinosis, and hearing loss. The authors report on...

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Published inBlood Vol. 136; no. 8; pp. 1002 - 1005
Main Authors Catto, Luiz Fernando B., Borges, Gustavo, Pinto, André L., Clé, Diego V., Chahud, Fernando, Santana, Barbara A., Donaires, Flavia S., Calado, Rodrigo T.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 20.08.2020
Subjects
Adult
Asymptomatic Diseases
Codon, Nonsense - genetics
GATA2 Deficiency - blood
GATA2 Deficiency - diagnosis
GATA2 Deficiency - genetics
GATA2 Transcription Factor - genetics
Genes, Recessive - genetics
Germ-Line Mutation
Hematopoietic Stem Cells - metabolism
Hematopoietic Stem Cells - pathology
Heterozygote
Humans
Male
Middle Aged
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Young Adult
Zinc Fingers - genetics
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Summary:Haploinsufficiency of GATA2 caused by heterozygous loss-of-function mutations is associated with cytopenias and predisposition to myelodysplasia and AML with other variable extrahematopoietic manifestions, including lymphedema, pulmonary alveolar proteinosis, and hearing loss. The authors report on 2 siblings with the disorder whose father was asymptomatic because of an acquired missense mutation in the affected allele that was restricted to hematopoietic cells; surprisingly, he also had no extrahematopoietic complications.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.2020005538