Somatic genetic rescue in hematopoietic cells in GATA2 deficiency | Zendy

Luiz Fernando Bazzo Catto | Zendy; Gustavo Borges | Zendy; André Luiz Pinto Santos | Zendy; Diego V. Clé | Zendy; Fernando Chahud | Zendy; Bárbara A. Santana | Zendy; Flávia S. Donaires | Zendy; Rodrigo T. Calado | Zendy

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Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Author(s) -

Luiz Fernando Bazzo Catto,

Gustavo Borges,

André Luiz Pinto Santos,

Diego V. Clé,

Fernando Chahud,

Bárbara A. Santana,

Flávia S. Donaires,

Rodrigo T. Calado

Publication year - 2020

Publication title -

blood

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.515

H-Index - 465

eISSN - 1528-0020

pISSN - 0006-4971

DOI - 10.1182/blood.2020005538

Subject(s) - haploinsufficiency , missense mutation , gata2 , mutation , haematopoiesis , medicine , genetics , immunology , biology , stem cell , phenotype , gene

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.

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