HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Franziska KauseRong ZhangMichael LudwigEberhard SchmiedekeAnke RissmannHolger ThieleJanine AltmuellerStefan HermsAlina C HilgerFriedhelm HildebrandtHeiko Martin ReutterPublished in: Birth defects research (2019)
Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes.