Abstract Search

ea0095oc8.3 | Oral Communications 8 | BSPED2023

Dysregulated pathways reveal NOVEL mechanistic insights underlying HMGA2-related growth failure in Silver Russell Syndrome

Maharaj Avinaash , Cottrell Emily , Massoud Ahmed , Hwa Vivian , Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, the underlying mechanism underlying growth retardation has, thus far, not been elucidated....

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ea0085p44 | Pituitary and Growth 1 | BSPED2022

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2

Maharaj Avinaash , Cottrell Emily , van Duyvenvoorde Hermine , de Bruin Christiaan , Joustra Sjoerd , Kant Sarina , van der Kaay Danielle , Inmaculada Castilla de Cortazar Larrea Maria , Massoud Ahmed , Metherell Louise , Hwa Vivian , Hombach-Klonisch Sabine , Klonisch Thomas , Storr Helen

Background: Silver-Russell syndrome (SRS) is a unique disorder characterised by characteristic features and growth restriction due to 11p15 LOM or upd(7)Mat in ~60% cases. Monogenic defects are a rare cause of SRS and HMGA2 mutations have been identified in 4 cases to date. The function of HMGA2 is poorly understood.Objectives: Assess the clinical phenotypes of 6 new patients with novel heterozygous HMGA2 defects and evaluate t...

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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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Endocrine Abstracts

Dysregulated pathways reveal NOVEL mechanistic insights underlying HMGA2-related growth failure in Silver Russell Syndrome

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2

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

BiosciAbstracts