H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.

Bjørt K KragesteenFrancesco BrancatiMaria Cristina DigilioStefan MundlosMalte Spielmann

Published in: Journal of medical genetics (2019)

Our data indicate that housekeeping promoters may titrate promiscuous enhancer activity to ensure normal morphogenesis. The deletion of the H2AFY promoter as a cause of Liebenberg syndrome highlights this new mutational mechanism and its role in congenital disease.

Keyphrases

transcription factor
dna methylation
gene expression
case report
electronic health record
big data
binding protein