Journal article

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2017


Awarded by Newlife Foundation

Awarded by Medical Research Council UK

Awarded by Central Manchester University Hospitals NHS Foundation Trust, Kabuki Research Fund

Awarded by Health Innovation Challenge Fund

Awarded by Wellcome Trust Sanger Institute

Awarded by Cambridge South REC

Awarded by Republic of Ireland REC

Funding Acknowledgements

We are thankful to all individual and their families for participating in the study. We acknowledge the support of the Newlife Foundation (S.B., SG/L4-L5l01 and 16-17/10; and A.S.W., 15-16/03) and Medical Research Council UK (L002744/1). We are grateful to the Scales family and friends for supporting S.C. through the Central Manchester University Hospitals NHS Foundation Trust, Kabuki Research Fund number 629396. N.A.R. is supported by a Kidney Research UK fellowship. H.M.S. is supported by NIHR Lecturer award and the Academy of Medical Sciences. R.L. is supported by a Wellcome Trust Senior Clinical Fellowship. B.C. is a senior clinical investigator of the Fund for Scientific Research-Flanders. We thank Prof. Susan Kimber for providing laboratory space to conduct some of the experiments. The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. None of the authors have any conflicts of interests to declare.