Characterisation of dominant-negative GH receptor variants reveals a potential therapeutic target for short stature.

Afiya Andrews Emily Cottrell Avinaash V Maharaj Tasneem Ladha Jack L Williams Katharina Schilbach Lena R Kaisinger John R B Perry Louise A Metherell Peter J McCormick Helen L Storr

Published in: European journal of endocrinology (2023)

We identified and characterised two novel, naturally occurring truncated GHR gene variants. Intriguingly, these DN GHR variants act via the same cryptic splice acceptor site, highlighting impairing GH binding to excess GHBP as a potential therapeutic approach.

Keyphrases

copy number
growth hormone
genome wide
dna methylation
transcription factor