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ea0005p166 | Growth and Development | BES2003

A novel mutation within the conserved eh-1 domain of HESX1 causes evolving CPHD due to the loss of interaction with the co-repressor TLE1

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...

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A novel mutation within the conserved eh-1 domain of HESX1 causes evolving CPHD due to the loss of interaction with the co-repressor TLE1

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