Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Author:

Gangfuß Andrea1ORCID,Czech Artur2,Hentschel Andreas2,Münchberg Ute2,Horvath Rita3,Töpf Ana4,O'Heir Emily5ORCID,Lochmüller Hanns678,Stehling Florian9,Kiewert Cordula10,Sickmann Albert2,Kuechler Alma1112,Kaiser Frank J.1112,Kölbel Heike1,Christiansen Jon1,Schara‐Schmidt Ulrike1,Roos Andreas18

Affiliation:

1. Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro‐ and Behavioral Sciences University Duisburg‐Essen Essen Germany

2. Leibniz‐Institut für Analytische Wissenschaften – ISAS – e.V. Dortmund Germany

3. Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine University of Cambridge Cambridge UK

4. The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK

5. Center for Mendelian Genomics, Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA

6. Department of Neuropediatrics and Muscle Disorders Medical Center – University of Freiburg, Faculty of Medicine Freiburg Germany

7. Centro Nacional de Análisis Genómico (CNAG‐CRG), Center for Genomic Regulation Barcelona Institute of Science and Technology (BIST) Barcelona Spain

8. Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute University of Ottawa Ottawa Canada

9. Children's Hospital, Department of Pneumology University Hospital Essen Essen Germany

10. Children's Hospital, Department of Endocrinology University Hospital Essen Essen Germany

11. Institute of Human Genetics University Hospital Essen, University Duisburg‐Essen Essen Germany

12. Essener Zentrum für seltene Erkrankungen (EZSE) University Hospital Essen, University Duisburg‐Essen Essen Germany

Funder

Canada Foundation for Innovation

Canadian Institutes of Health Research

European Regional Development Fund

European Research Council

French Muscular Dystrophy Association

University of Kentucky

National Human Genome Research Institute

Publisher

Wiley

Subject

Pathology and Forensic Medicine

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