Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Accepted/In Press date: 11 May 2022

e-pub ahead of print date: 9 June 2022

Published date: September 2022

Additional Information: Funding Information: We would like to thank all the participating families for participating in this study. This work was granted by the French network of University Hospitals HUGO (“Hôpitaux Universitaires du Grand Ouest”); the French Ministry of Health; and the Health Regional Agencies from Poitou-Charentes (represented by Frédérique Allaire), Bretagne, Pays de la Loire, and Centre-Val de Loire (HUGODIMS, 2013, RC14_0107). W.K.C. was supported by grants from Simons Foundation Autism Research Initiative, United States and the JPB Foundation, United States. This study is part of the GEM EXCELL, a network of excellence in genetics and genomics embedded in the French network of University Hospitals HUGO (“Hôpitaux Universitaires du Grand Ouest”). This work was supported by the Estonian Research Council, Estonia grant PRG471 (K.Õ. and K.R.), the National Natural Science Foundation of China numbers. 81970238 and 82170406 (J.Z.), and The Royal Society UK, United Kingdom number IEC∖NSFC∖201094 (J.Z.). The Broad Institute Center for Mendelian Genomics, United States (UM1 HG008900) is funded by the National Human Genome Research Institute, United States with supplemental funding provided by the National Heart, Lung, and Blood Institute, United States under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute, United States. R.E.S. R.J.L. M.J.F. and C.E.S. were funded, in part, by a grant from the South Carolina Department of Disabilities and Special Needs (SCDDSN) and another grant from the National Institute of Neurological Disorders and Stroke, United States (NINDS; R01NS073854). Conceptualization: S.K. B.I. K.T.K. J.Z.; Data Curation: S.K. J.Z. T.B. A.C.-L. X.Z. S.M.R. S.S.J. E.K. A.-S.D.-P. B.C. A.J.K. L.T.H. H.L. R.E.S. R.J.L. W.D. E.T. V.V. K.M. F.L.R. F.R. E.R. D.G. S.A.C. X.B. E.B.-B. B.K. K.Õ. K.R. P.I. I.M.W. E.E.B. S.H.G. P.C. E.G.S. K.G.M. M.R. Y.v.B. M.v.S. W.K.C. A.W. D.Q. F.B. K.R. P.L. E.S. L.R. K.S. E.M.P. S.M.B. S.S.M, A.B.J. M.H.C. S.P. P.Q.D. M.V. S.M. B.G.-D. X.L.G. S.A.-B. S.O. S.S. P.B. D.B. A.T. E.C. L.P. R.R. A.B. J.A.R. M.J.F. H.P.-P. S.R.A.R. S.H. S.E.A. C.E.S. F.M. S.B. K.T.K. B.I.; Methodology: S.K. B.I. K.T.K. J.Z.; Writing-original draft: S.K. B.I. K.T.K. J.Z.; Writing-review and editing: S.K. J.Z. T.B. A.C.-L. X.Z. S.M.R. S.S.J. E.K. A.-S.D.-P. B.C. A.J.K. L.T.H. H.L. R.E.S. R.J.L. W.D. E.T. V.V. K.M. F.L.R. F.R. E.R. D.G. S.A.C. X.B. E.B.-B. B.K. K.Õ. K.R. P.I. I.M.W. E.E.B. S.H.G. P.C. E.G.S. K.G.M. M.R. Y.v.B. M.v.S. W.K.C. A.W. D.Q. F.B. K.R. P.L. E.S. L.R. K.S. E.M.P. S.M.B. S.S.M, A.B.J. M.H.C. S.P. P.Q.D. M.V. S.M. B.G.-D. X.L.G. S.A.-B. S.O. S.S. P.B. D.B. A.T. E.C. L.P. R.R. A.B. J.A.R. M.J.F. H.P.-P. S.R.A.R. S.H. S.E.A. C.E.S. F.M. S.B. K.T.K. B.I. Written informed consent was obtained for use of medical history, genetic testing report, and imaging (if applicable), as approved by the Institutional Review Board of the University Hospital Center (CHU) of Nantes. Allen Institute for Brain Science. BrainSpan. Accessed on May 10, 2022. www.brainspan.org, University of Washington, Hudson-Alpha Institute for Biotechnology, and Berlin Institute of Health. Combined Annotation Dependent Depletion (CADD). Accessed on May 10, 2022. https://cadd.gs.washington.edu/, National Center for Biotechnology Information. dbSNP. Accessed on May 10, 2022. http://www.ncbi.nlm.nih.gov/projects/SNP/, BHCMG Centers for Mendelian Genomics network. Accessed on May 10, 2022. GeneMatcher, https://genematcher.org/, Broad Institute of MIT and Harvard. GTEx portal. Accessed on May 10, 2022. https://gtexportal.org/home/gene/WNK3, Broad Institute of MIT and Harvard. gnomAD. Accessed on May 10, 2022. http://gnomad.broadinstitute.org/, Radboudumc. MetaDome. Accessed on May 10, 2022. https://stuart.radboudumc.nl/metadome/, The University of Melbourne. Missense Tolerance Ratio Gene Viewer. Accessed on May 10, 2022. http://mtr-viewer.mdhs.unimelb.edu.au/, Montpellier University Hospital. MobiDetails. Accessed on May 10, 2022. https://mobidetails.iurc.montp.inserm.fr/MD/, Johns Hopkins University. OMIM. Accessed on May 10, 2022. http://www.omim.org/, Rutgers University, University of California San Diego, University of California San Francisco, and San Diego Supercomputer Center. Protein Data Bank. Accessed on May 10, 2022. https://www.rcsb.org/ Funding Information: We would like to thank all the participating families for participating in this study. This work was granted by the French network of University Hospitals HUGO (“Hôpitaux Universitaires du Grand Ouest”); the French Ministry of Health; and the Health Regional Agencies from Poitou-Charentes (represented by Frédérique Allaire), Bretagne, Pays de la Loire, and Centre-Val de Loire (HUGODIMS, 2013, RC14_0107). W.K.C. was supported by grants from Simons Foundation Autism Research Initiative, United States and the JPB Foundation, United States . This study is part of the GEM EXCELL, a network of excellence in genetics and genomics embedded in the French network of University Hospitals HUGO (“Hôpitaux Universitaires du Grand Ouest”). This work was supported by the Estonian Research Council, Estonia grant PRG471 (K.Õ. and K.R.), the National Natural Science Foundation of China numbers. 81970238 and 82170406 (J.Z.), and The Royal Society UK, United Kingdom number IEC∖NSFC∖201094 (J.Z.). The Broad Institute Center for Mendelian Genomics, United States (UM1 HG008900) is funded by the National Human Genome Research Institute, United States with supplemental funding provided by the National Heart, Lung, and Blood Institute, United States under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute, United States . R.E.S., R.J.L., M.J.F., and C.E.S. were funded, in part, by a grant from the South Carolina Department of Disabilities and Special Needs (SCDDSN) and another grant from the National Institute of Neurological Disorders and Stroke, United States (NINDS; R01NS073854). Publisher Copyright: © 2022 American College of Medical Genetics and Genomics

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Keywords: Exome sequencing, KCC2, Neurodevelopmental disease, WNK3, X-linked intellectual disability

Local EPrints ID: 469160

URI: http://eprints.soton.ac.uk/id/eprint/469160

DOI: doi:10.1016/j.gim.2022.05.009

ISSN: 1098-3600

PURE UUID: 331c453d-6af1-4e88-9e04-d073a72c2900

ORCID for Eleanor G Seaby: orcid.org/0000-0002-6814-8648

Date deposited: 08 Sep 2022 16:31

Last modified: 17 Mar 2024 07:24