hrp0084fc11.2 | Neuroendocrinology | ESPE2015

Functional Characterisation of a POU1F1 Mutation Unexpectedly Associated with Isolated Growth Hormone Deficiency (IGHD): A Novel Aetiology of IGHD

Sobrier Marie-Laure , Tsai Yu-Cheng , Perez Christelle , Leheup Bruno , Bouceba Tahar , Duquesnoy Philippe , Sizova Daria , Liebhaber Stephen , Cooke Nancy E , Amselem Serge

Background: In humans, the GHN gene transcription is under the control of a Locus Control Region (LCR) enhancer, HSI, located 14.5 kb 5′ to the hGHN promoter. POU1F1, a pituitary-specific transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and the activation of GHN, PRL and TSH gene transcription. All POU1F1 mutations so far reported have been linke...