Article
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
Blood - 9 May 2013
Hsu Amy P, Johnson Kirby D, Falcone E Liana, Sanalkumar Rajendran, Sanchez Lauren, Hickstein Dennis D, Cuellar-Rodriguez Jennifer, Lemieux Jacob E, Zerbe Christa S, Bresnick Emery H, Holland Steven M
Abstract excerpt
Previous reports of GATA2 mutations have focused on the coding region of the gene or full gene deletions. We recently identified 2 patients with novel insertion/deletion mutations predicted to result in mRNA nonsense-mediated decay, suggesting haploinsufficiency as the mechanism of GATA2 deficient disease. We therefore screened patients without identified exonic lesions for mutations within conserved noncoding...
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