UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Rhonda E SchnurSairah YousafJames LiuWendy K ChungLindsay RhodesMichael MarbleRegina M ZambranoNara SobreiraParul JayakarMary Ella PierpontMatthew J SchultzPavel N PichurinRory J OlsonGail E GrahamMatthew OsmondGustavo A Contreras-GarcíaKarina A Campo-NeiraCamilo A Peñaloza-MantillaMark FlageSrikar KuppaKarina NavarroMaria J Guillen SacotoIngrid M WentzensenMaria I ScaranoJane JuusolaCarlos E PradaRobert B Hufnagel

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

UBA2 variants cause a recognizable syndrome with a wide phenotypic spectrum. Our data suggest that loss of UBA2 function underlies the human UBA2 monogenic disorder and highlights the importance of SUMOylation in the development of affected tissues.

Keyphrases

copy number
endothelial cells
case report
gene expression
electronic health record
big data
genome wide
pluripotent stem cells