Search

I GATA2 i encodes a pioneer transcription factor that harbors two zinc fingers. Heterozygous germline mutations in I GATA2 i have been associated with a variety of clinical manifestations, such as lymphedema, and persistent warts in patients with Emberger syndrome and immunodeficiency in MonoMAC syndrome. The I GATA2 i germline mutations described so far have been classified into five groups: (i) truncating mutations proximal to the C-finger; (ii) C-finger missense mutations; (iii) noncoding mutations within an intron; (iv) mutations resulting in abnormal mRNA splicing; and (v) a recently described in-frame insertion mutation [[2]]. [Extracted from the article]