ArticleAmerican journal of human genetics2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 29 citations in OpenAlex.
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Authors and funding
43 authors at 20 institutions in 4 countries.
Elizabeth E PalmerGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.
Raman KumarSchool of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia.
Christopher T GordonLaboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
Marie ShawSchool of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia.
Laurence HubertParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Renee CarrollSchool of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia.
Marlène RioService de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (APHP), 75015 Paris, France.
Lucinda MurrayGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
Melanie LefflerGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
Tracy Dudding-BythGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; Grow Up Well Priority Research Centre, University of Newcastle, Callaghan NSW 2308, Australia.
Myriam OufademLaboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Andrea M LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Allison TamDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Richard WebsterChildren's Hospital at Westmead, Westmead, NSW 2145, Australia.
Susan BrammahElectron Microscope Unit, Anatomical Pathology, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia.
Francesca FilippiniLaboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
John PollardBrain Mind Research Institute, The University of Sydney, Camperdown, NSW 2050, Australia.
Judy SpiesDepartment of Neurology, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Andre E MinocheThe Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.
Mark J CowleyThe Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.
Sarah RisenMeyer Centre for Developmental Pediatrics, Texas Children's Hospital Autism Center, Houston, TX 77054, USA.
Nina N Powell-HamiltonMedical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Jessica E TusiMedical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
LaDonna ImmkenDell Children's Medical Center of Central Texas, Austin, TX 78723, USA.
Honey NagakuraDell Children's Medical Center of Central Texas, Austin, TX 78723, USA.
Christine Bole-FeysotParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Genomic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Patrick NitschkéParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Alexandrine GarrigueParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Geneviève de Saint BasileParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Centre d'Etudes des Déficits Immunitaires, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
Emma KivuvaPeninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, UK.
DDD StudyWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Richard H ScottGenomics England, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Augusto RendonGenomics England, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Department of Haematology, University of Cambridge, Long Road, Cambridge CB2 0PT, UK.
Arnold MunnichParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (APHP), 75015 Paris, France.
William NewmanManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK.
Bronwyn KerrManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK.
Claude BesmondParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jeanne AmielLaboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (APHP), 75015 Paris, France.
Michael FieldGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia. Electronic address: mike.field@health.nsw.gov.au.
Jozef GeczSchool of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia; Healthy Mothers and Babies, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address: jozef.gecz@adelaide.edu.au.
Baylor College of Medicine · USHunter Genetics · AUUniversité Paris Cité · FRInserm · FRUniversity of Adelaide · AUAlfred I. duPont Hospital for Children · USDélégation Paris 5 · FRDell Children's Medical Center of Central Texas · USGenomics England · GBAssistance Publique – Hôpitaux de Paris · FRChildren's Hospital at Westmead · AUConcord Repatriation General Hospital · AUGarvan Institute of Medical Research · AUInstitut des Maladies Génétiques Imagine · FRRoyal Devon & Exeter NHS Foundation Trust · GBRoyal Prince Alfred Hospital · AUSorbonne Paris Cité · FRSouth Australian Health and Medical Research Institute · AUSt Mary's Hospital · GBTexas Children's Hospital · US
Funding
MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MNIGMS NIH HHS T32 GM007526Wellcome Trust
Abstract
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations. We show that the c.2737C>T variant does not trigger nonsense-mediated decay of the ZSWIM6 mRNA in affected individual-derived cells. This finding supports the existence of a truncated ZSWIM6 protein lacking the Sin3-like domain, which could have a dominant-negative effect. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes.
Indexed as
Central Nervous SystemCodon, NonsenseDNA-Binding ProteinsHigh-Throughput Nucleotide SequencingHumansIntellectual DisabilityLimb Deformities, CongenitalMandibulofacial DysostosisNeurocognitive DisordersPeripheral Nervous SystemCodon, NonsenseDNA-Binding ProteinsZSWIM6 protein, humanautismde novoepilepsyexome sequencinggenomicsintellectual disabilitynonsense-mediated decayrecurrentubiquitinationZSWIM6
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