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hrp0094p1-173 | Growth Hormone and IGFs B | ESPE2021

Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

Cottrell Emily , Maharaj Avinaash , Williams Jack , Chatterjee Sumana , Cirillo Grazia , Giudice Emanuele Miraglia del , Festa Adalgisa , Palumbo Stefania , Capalbo Donatella , Salerno Mariacarolina , Pignata Claudio , Savage Martin O. , Schilbach Katharina , Bidlingmaier Martin , Hwa Vivian , Metherell Louise A. , Grandone Anna , Storr Helen L. ,

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...

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Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

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