ea0005p166 | Growth and Development | BES2003
Woods K
, Carvalho L
, Zamparini A
, Stifani S
, Marcal N
, Turton J
, Mendonca B
, Brickman J
, Arnhold I
, Dattani M
The paired-like homeodomain transcriptional repressor HESX1 is implicated in forebrain and pituitary embryogenesis. A homozygous mutation (R160C) was identified in two siblings with septo-optic dysplasia (SOD), with consequent loss of DNA-binding. We have now identified a second homozygous mutation (I26T) within the highly conserved engrailed homology domain (eh-1) of HESX1 that is crucial for the repressor function of HESX1. We aimed to investigate the functional consequences...