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ey0021.11-10 | Genetic Risk Score and New Genes | ESPEYB21

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Y Zhao , M Chukanova , KA Kentistou , Z Fairhurst-Hunter , AM Siegert , RY Jia , GKC Dowsett , EJ Gardner , K Lawler , FR Day , LR Kaisinger , YCL Tung , Lam B Yee Hong , HJC Chen , Q Wang , J Berumen-Campos , P Kuri-Morales , R Tapia-Conyer , J Alegre-Diaz , I Barroso , J Emberson , JM Torres , R Collins , D Saleheen , KR Smith , DS Paul , F Merkle , IS Farooqi , NJ Wareham , S Petrovski , S O'Rahilly , KK Ong , GSH Yeo , JRB Perry

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...

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ey0021.6-2 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

KL Ayers , S Eggers , BN Rollo , KR Smith , NM Davidson , NA Siddall , L Zhao , J Bowles , K Weiss , G Zanni , L Burglen , S Ben-Shachar , J Rosensaft , A Raas-Rothschild , A Jorgensen , RB Schittenhelm , C Huang , G Robevska , J van den Bergen , F Casagranda , J Cyza , S Pachernegg , DK Wright , M Bahlo , A Oshlack , TJ O'Brien , P Kwan , P Koopman , GR Hime , N Girard , C Hoffmann , Y Shilon , A Zung , E Bertini , M Milh , B Ben Rhouma , N Belguith , A Bashamboo , K McElreavey , E Banne , N Weintrob , B BenZeev , AH Sinclair

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

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ESPE Yearbook of Paediatric Endocrinology

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

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