Download pdf - Supplementary information to - Nature ResearchSarah F Smithson15, Nine V Knoers1, Jasper J van der Smagt1, Isaac J Nijman1, Wigard P Kloosterman 1 , Mieke M van Haelst 1,16 , Gijs

Supplementary information to:

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdalena Harakalova * 1, Jeske JT van Harssel* 1, Paulien A Terhal1, Stef van Lieshout1,

Karen Duran1, Ivo Renkens1, David JD Amor2,3, Louise C Wilson4, Edwin P Kirk5, Claire LS

Turner6, Debbie Shears7, Sixto Garcia-Minaur8, Melissa M Lees4, Alison Ross9, Hanka

Venselaar10,11, Gert Vriend10,11, Hiroki Takanari12, Martin B Rook12, Marcel AG van der

Heyden12, Folkert W Asselbergs13, Hans M Breur14, Marielle E Swinkels1, Ingrid J Scurr15,

Sarah F Smithson15, Nine V Knoers1, Jasper J van der Smagt1, Isaac J Nijman1, Wigard P

Kloosterman1, Mieke M van Haelst1,16, Gijs van Haaften# 1, Edwin Cuppen,#1,17

1Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 2Murdoch Children’s Research Institute, Royal Children’s Hospital, Victoria, Australia 3Department of Paediatrics, University of Melbourne, Victoria, Australia 4Department of Clinical Genetics, Great Ormond Street Hospital, London, UK 5Department of Medical Genetics, Sydney Children’s Hospital, Sydney, Australia 6Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK 7Clinical Genetics Department, Churchill Hospital, Oxford, UK 8Institute for Medical and Molecular Genetics, La Paz University Hospital, Madrid, Spain 9Department Clinical Genetics, Foresterhill, Aberdeen, UK 10Center for Molecular and Biomolecular Informatics (CMBI), Nijmegen, The Netherlands 11Nijmegen Center for Molecular Life Sciences (NCMLS), Radboud University Nijmegen Medical Center, The Netherlands 12Department of Medical Physiology, University Medical Center Utrecht, Utrecht, The Netherlands. 13Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands 14Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands 15Department of Clinical Genetics, St. Michael’s Hospital, Bristol, UK 16Section of Genomic Medicine, Imperial College London, London, UK 17!Hubrecht Institute, The Royal Dutch Academy of Arts and Sciences, University Medical Center Utrecht, Utrecht, The Netherlands

* equal contribution

# Corresponding authors:

Email: [email protected], phone: +31 88 7568901 or +31 30 2121969, fax: +31 88

7568479.

Email: [email protected], phone: +31 88 7568603, fax: +31 88 7568479.

Nature Genetics: doi:10.1038/ng.2324

Overview of Supplementary Items

Supplementary Table 1: Next-generation sequencing statistics

Supplementary Table 2: Clinical overview of all patients

Supplementary Table 3: Predictions of identified variants

Supplementary Table 4: Protein modeling predictions

Supplementary Table 5: Primer sequences

Supplementary Figure 1: Heterozygous missense variant in ABCC9 identified by exome

sequencing

Supplementary Figure 2: Heterozygous missense variants in ABCC9 identified in Cantu

syndrome patients

Supplementary Note: Cantu patients negative for ABCC9
















