Journal article

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

Emma K Baker, Merlin G Butler, Samantha N Hartin, Ling Ling, Bui Minh, David Francis, Carolyn Rogers, Michael J Field, Jennie Slee, Dinusha Gamage, David J Amor, David E Godler

TRANSLATIONAL PSYCHIATRY | SPRINGERNATURE | Published : 2020

Abstract

Chromosome 15 (C15) imprinting disorders including Prader-Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11-q13 region, associated with abnormal DNA methylation and/or copy number changes. This study compared changes in mRNA levels of UBE3A and SNORD116 located within the 15q11-q13 region between these disorders and their subtypes and related these to the clinical phenotypes. The study cohort included 58 participants affected with a C15 imprinting disorder (PWS = 27, AS = 21, Dup15q = 10) and 20 typically developing controls. Semi-quantitative analysis of mRNA from peripher..

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Grants

Awarded by NHMRC


Awarded by Next Generation Clinical Researchers Programme-Career Development Fellowship - Medical Research Future Fund


Awarded by Financial Markets Foundation for Children (Australia)


Awarded by Foundation for Prader-Willi Syndrome Research, USA


Awarded by National Institute of Child Health and Human Development (NICHD)


Funding Acknowledgements

This study was supported by the Victorian Government's Operational Infrastructure Support Programme, with the salaries supported by NHMRC project grants (Nos. 1049299 and 1103389 to D.E.G.); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (D.E.G.); Next Generation Clinical Researchers Programme-Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334 to D.E.G.); the Financial Markets Foundation for Children (Australia; No. 2017-361 to D.E.G. and D.J.A.); the Genetics of Learning Disability (GOLD) Service (M.F.); the Foundation for Prader-Willi Syndrome Research, USA (grant Nos. 43445 and 501393 to D.E.G. and D.J.A., respectively); the National Institute of Child Health and Human Development (NICHD; grant No. HD02528 to M.G.B.); and joint funding from the Prader-Willi Syndrome Association (Australia), Foundation for Angelman Syndrome Therapeutics (Australia) and Dup15q Australia Ltd. The authors would like to thank all the study participants and their families for being involved in the study. We would also like to thank James O'Brien from the Prader-Willi Syndrome Association (Australia), Meagan Cross and Chloe Simons from the Foundation for Angelman Syndrome Therapeutics (Australia), and Chris Cahir from Dup15q Australia Ltd. for their assistance with the recruitment of participants.