ArticleAmerican journal of human genetics2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Erratum issuedOpen access · bronzeAbstract read
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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. An erratum has been issued. Cited by 59 papers.
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59citing papers in PubMed
3.6field-weighted citation impact, top 6% of its field
What it found
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Who cites it
59 citing papers in PubMed, 107 citations in OpenAlex.
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Corrections and comments
- Erratum issued
Authors and funding
44 authors at 19 institutions in 6 countries.
Davor LesselInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistraße 52, 20246 Hamburg, Germany. Electronic address: d.lessel@uke.de.
Claudia SchobInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Sébastien KüryCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France.
Margot R F ReijndersDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Tamar HarelDepartment of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001.
Mohammad K EldomeryDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zeynep Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jonas DeneckeDepartment of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Shimon EdvardsonPediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001.
Estelle ColinDepartment of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France.
Alexander P A StegmannDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Erica H GerkesDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Marine TessarechDepartment of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France.
Dominique BonneauDepartment of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France.
Magalie BarthDepartment of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France.
Thomas BesnardCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France.
Benjamin CognéCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France.
Anya Revah-PolitiInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Yaping YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
LaDonna ImmkenClinical Genetics, Specially for Children, Austin, TX 78723, USA.
Nelly OundjianValley Hospital, Ridgewood, NJ, USA.
Katherine L HelbigDivision of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Naomi MeeksDivision of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA; Clinical Genetics, Children's Hospital Colorado, Aurora, CO, USA.
Kelsey ZegarDivision of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA; Clinical Genetics, Children's Hospital Colorado, Aurora, CO, USA.
Jenny MortonWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, B15 2TG Birmingham, UK.
DDD study
Jolanda H SchievingDepartment of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Ana ClaasenCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Matthew HuentelmanCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Vinodh NarayananCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Keri RamseyCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
C4RCD Research Group
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Orly ElpelegDepartment of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001.
Sandra MercierCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France.
Stéphane BézieauCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France.
Christian KubischInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistraße 52, 20246 Hamburg, Germany.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Stefan KindlerInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Hans-Jürgen KreienkampInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kreienkamp@uke.de.
Baylor College of Medicine · USGénétique Médicale & Génomique Fonctionelle · FRRadboud University Nijmegen · NLTranslational Genomics Research Institute · USUniversität Hamburg · DEHadassah Medical Center · ILInserm · FRUniversity Medical Center Hamburg-Eppendorf · DEAmbry Genetics (United States) · USBirmingham Women’s and Children’s NHS Foundation Trust · GBCentre National de la Recherche Scientifique · FRChildren's Hospital Colorado · USColumbia University · USHelmholtz Zentrum München · DERadboud University Medical Center · NLUniversité d'Angers · FRUniversity of Colorado Denver · USUniversity of Groningen · NLValley Hospital · US
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kNHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006542
Abstract
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation. All amino acid changes are located within highly conserved helicase motifs and were found to either impair ATPase activity or RNA recognition in different in vitro assays. Moreover, protein variants exhibit an increased propensity to trigger stress granule (SG) formation resulting in global translation inhibition. Thus, our findings highlight the prominent role of translation control in development and function of the central nervous system and also provide molecular insight into how DHX30 dysfunction might cause a neurodevelopmental disorder.
Indexed as
Adenosine TriphosphatasesAdolescentAmino AcidsCell LineCell Line, TumorCentral Nervous SystemChildChild, PreschoolDevelopmental DisabilitiesFemaleHEK293 CellsHumansIntellectual DisabilityMaleMutation, MissenseRNAAdenosine TriphosphatasesAmino AcidsDHX30 protein, humanRNARNA Helicases
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