Journal article

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Richard J Holt, Rodrigo M Young, Berta Crespo, Fabiola Ceroni, Cynthia J Curry, Emanuele Bellacchio, Dorine A Bax, Andrea Ciolfi, Marleen Simon, Christina R Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B Dobyns, Alaa Afif Mohammed, Samuel JH Clokie, Celia Zazo Seco, Yong-Hui Jiang, Kristina P Sorensen, Helle Andersen Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2019

University of Melbourne Researchers

Grants

Awarded by La Fondation de France


Awarded by AIRC (the Italian Foundation for Cancer Research)


Awarded by National Heart, Lung, and Blood Institute


Awarded by French National Research Agency


Awarded by US National Institutes of Health under the National Institute of Neurological Disorders and Stroke (NINDS)


Awarded by MRC (Medical Research Council) Programme Grant


Awarded by Wellcome Trust Investigator Award


Awarded by Joint MRC/Wellcome Trust


Funding Acknowledgements

We would like to thank the families for their participation in our study. We are grateful to the West Midlands Regional Clinical Genetics Service and, in particular, Shaun Green for their help with sample processing and clinical genetic testing of UK families with AMC conditions. Data for individual 4 were obtained by the Duke Genome Sequencing clinic supported by the Duke University Health System. We would also like to thank Rebecca Spillmann (Duke Pediatric Medical Genetics, Duke University Medical Center, Durham, NC, USA), Ioana Cutcutache, Matthew Page (Translational Medicine, UCB Pharma, Slough, UK) and Martin Armstrong (Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium).This work was supported by grants from Baillie Gifford; Visually Impaired Children Taking Action (VICTA) (www.victa.org.uk); Microphthalmia, Anophthalmia and Coloboma Support (MACS) (www.macs.org.uk); HEIF (Health Innovation Fund, Oxford Brookes University); La Fondation de France (grant number 2015-00060235, 2015); Fondation Maladies Rares and Retina France; Fondazione Bambino Gesu (Vite Coraggiose); E-Rare (NSEuroNet); AIRC (the Italian Foundation for Cancer Research) (IG 21614); the Italian Ministry of Health (Ricerca Corrente); and the National Heart, Lung, and Blood Institute (R35 HL135742). French patients are part of the Rare Disease Cohort (RaDiCo)-AC-Oeil. RaDiCo is funded by the French National Research Agency under the specific program "Investments for the Future,'' cohort grant agreement ANR-10-COHO-0003. V.S. and J.S. were supported by UCB Celltech and the Duke Genome Sequencing Clinic grant. W.B.D. was supported by the US National Institutes of Health under the National Institute of Neurological Disorders and Stroke (NINDS) grant R01NS058721. R.M.Y. and S.W.W. were supported by an MRC (Medical Research Council) Programme Grant (MR/L003775/1 to S.W.W. and G. Gestri) and a Wellcome Trust Investigator Award (104682/Z/14/Z). The human embryonic and fetal material was provided by the Joint MRC/Wellcome Trust (grant MR/R006237/1) Human Developmental Biology Resource (www.hdbr.org).