De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

Samuel M Bradbrook; Gail Graham; Melissa T. Carter; Maria Kibaek; Christina Fagerberg; Martin J. Larsen; Katherine Dawson; Cheryl Meuter; Alexander Pepler; Thomas Besnard; Marie Vincent; Bertrand Isidor; Stephane Bezieau; Benjamin Cogne; Kathrine Bjørgo; Silja Svanstrøm Amundsen; Thomas Courtin; Lisa Emrick; Jill A. Rosenfeld; Monika Weisz-Hubshman; Bryan C. Mak; Julian Martinez-Agosto; Mathilde Heulin; Gilles Morin; Boris Keren; Sacha Schutz; Pauline Monin; Mathilde Pujalte; Louis Januel; Gaetan Lesca; Marie‐Noëlle Bonnet‐Dupeyron Valence; Henri Margot; Jonathan Levy; Emmanuela Iovino; Federica Isidori; Tommaso Pippucci; Francesca Montanari; Lauren Bell; Jennifer Burton; Erin Torti; Ingrid M. Wentzensen; Julien Marcadier; Undiagnosed Dis Network

doi:10.1002/ajmg.a.64242

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

Samuel M Bradbrook, Gail Graham, Melissa T. Carter, Maria Kibaek, Christina Fagerberg, Martin J. Larsen, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, …

American journal of medical genetics. Part A, Vol.200(1), pp.244-252

01/2026

DOI: https://doi.org/10.1002/ajmg.a.64242

PMID: 40936200

Résumé

Despite significant knowledge advances in recent decades, the role of most protein‐coding genes in human disease remains incompletely understood. Exome sequencing continues to improve our understanding by elucidating novel genotype–phenotype associations. Across multiple healthcare centers, either exome or genome sequencing was performed in 18 patients with shared features of global developmental delay, hypotonia, and dysmorphisms. De novo, truncating variants in ZNF865 were identified in all 18 patients, with all but one clustered toward the C‐terminus. Four variants were seen more than once in unrelated patients. No disease‐causing variants were identified in other genes that would explain the patients' phenotypes. Little is known of the function of ZNF865, which belongs to the poly‐zinc finger family of proteins that contain a large array of tandem C2H2 zinc finger DNA binding domains. Our findings suggest that protein‐truncating variants in this gene lead to intellectual disability with a recognizable phenotypic pattern.

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Titre: De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Créateurs - sans rôle: Samuel M Bradbrook - Alberta Children's Hospital
Gail Graham - Children's Hospital of Eastern Ontario, University of Ottawa
Melissa T. Carter - University of Ottawa
Maria Kibaek - Odense University Hospital
Christina Fagerberg - University of Southern Denmark
Martin J. Larsen - University of Southern Denmark
Katherine Dawson - Oakland Medical Center
Cheryl Meuter - Oakland Medical Center
Alexander Pepler - Praxis für Humangenetik Tübingen
Thomas Besnard - Service de Génétique médicale
Marie Vincent - Service de Génétique médicale
Bertrand Isidor - Service de Génétique médicale
Stephane Bezieau - Service de Génétique médicale
Benjamin Cogne - Service de Génétique médicale
Kathrine Bjørgo - Oslo University Hospital
Silja Svanstrøm Amundsen - Oslo University Hospital
Thomas Courtin - Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié‐Salpêtrière
Lisa Emrick - Baylor College of Medicine
Jill A. Rosenfeld - Baylor College of Medicine
Monika Weisz-Hubshman - Texas Children's Hospital
Bryan C. Mak - Department of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA
Julian Martinez-Agosto - David Geffen School of Medicine at UCLA
Mathilde Heulin - Hôpital Jean‐Verdier
Gilles Morin - CHU Amiens‐Picardie
Boris Keren - University Hôpital Pitié‐Salpêtrière
Sacha Schutz - Université de Brest, INSERM, EFS, UMR1078, GGB
Pauline Monin - Hospices Civils de Lyon ‐ GHE
Mathilde Pujalte - Hospices Civils de Lyon
Louis Januel - Hospices Civils de Lyon, Groupe Hospitalier Est
Gaetan Lesca - Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon ‐ Université Claude Bernard Lyon 1
Marie‐Noëlle Bonnet‐Dupeyron Valence - Centre Hospitalier de Valence
Henri Margot - Centre Hospitalier Universitaire de Bordeaux
Jonathan Levy - Robert Debré Hospital, APHP
Emmanuela Iovino - IRCCS Azienda Ospedaliero‐Universitaria di Bologna
Federica Isidori - IRCCS Azienda Ospedaliero‐Universitaria di Bologna
Tommaso Pippucci - IRCCS Azienda Ospedaliero‐Universitaria di Bologna
Francesca Montanari - IRCCS Azienda Ospedaliero‐Universitaria di Bologna
Lauren Bell - University of Illinois College of Medicine Peoria
Jennifer Burton - University of Illinois College of Medicine Peoria
Erin Torti - GeneDx, LLC
Ingrid M. Wentzensen - GeneDx, LLC
Julien Marcadier - Alberta Children's Hospital
Undiagnosed Dis Network
Détails de publication: American journal of medical genetics. Part A, Vol.200(1), pp.244-252
Éditeur: John Wiley & Sons, Inc
Nombre de pages: 9
Note de subvention: Clinical Translational Core (CTC) of the Baylor College of Medicine (BCM) Intellectual and Developmental Disabilities Research Center (IDDRC) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (P50 HD103555) National Institute of Neurological Disorders and Stroke of the National Institutes of Health (U01HG007709; U01HG007942)
Identifiants: 99158758409311
Unité académique: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Langue: English
Type de ressource: Journal article