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ea0085oc8.3 | Oral Communications 8 | BSPED2022

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

Cottrell Emily , Maharaj Avinaash , Triggs-Raine Barbara , Thanasupawat Thatchawan , Williams Jack , Fujimoto Masanobu , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Joustra Sjoerd , Kant Sarina , Van der Kaay Danielle , Inmaculada Castilla de Cortazar Larrea Maria , Massoud Ahmed , Metherell Louise A , Hwa Vivian , Hombach-Klonisch Sabine , Klonisch Thomas , Storr Helen L.

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Point mutations in HMGA2 have been reported in 4 patients worldwide causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective: Identify and f...

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Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

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