دورية أكاديمية
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
| العنوان: | Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. |
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| المؤلفون: | Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Vincent M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Mayr J; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Brehm A; Octapharma Biopharmaceuticals GmbH, Berlin, Germany., Bupp C; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI., Warren K; Progenity, Inc, Louisville, KY., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, FL., Metcalfe KA; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester, United Kingdom., van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Jiang YH; Department of Genetics, Yale School of Medicine, New Haven, CT; Department of Neurobiology, Duke University School of Medicine, Durham, NC; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Mendelssohn BA; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA., Cope H; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Blackburn PR; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Goodenberger ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kennedy J; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Scurr I; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., de Saint Martin A; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Strasbourg, Strasbourg, France., Alembik Y; Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piton A; Unité de Génétique Moléculaire Strasbourg University Hospital, 1 place de l'Hôpital, Strasbourg Cedex, France., Bruel AL; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France; Génétique des Anomalies du Développement, Inserm UMR 1231, Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Déficience Intellectuelle de causes rares, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Thauvin-Robinet C; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon-Bourgogne, Dijon, France; INSERM UMR1231 GAD, Dijon, France., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Bourgeois D; Laboratoire National de Santé, Dudelange, Luxembourg., Dahan K; Laboratoire National de Santé, Dudelange, Luxembourg., Vignard V; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bonneau D; Service de Génétique médicale, CHU d'Angers, Angers, France., Colin E; Service de Génétique médicale, CHU d'Angers, Angers, France., Barth M; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Camby C; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Baujat G; Department of Medical Genetics, Necker Enfants Malades Hospital, AP-HP, Paris, France; INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France., Briceño I; Grupo Genética Humana, Facultad de Medicina, Universidad de La Sabana, Chía, Colombia., Gómez A; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia., Deb W; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. |
| المصدر: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 179-191. Date of Electronic Publication: 2021 Nov 30. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| مواضيع طبية MeSH: | Intellectual Disability*/diagnosis , Language Development Disorders*/genetics , Musculoskeletal Abnormalities*/genetics, Haploinsufficiency ; Humans ; Phenotype |
| مستخلص: | Purpose: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS. Methods: We report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12. We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status. Results: The expressivity of most clinical features in STISS is highly variable. In addition to previously reported DD/ID, speech delay, cardiac and renal anomalies, we also confirmed preaxial hand abnormalities as a feature of this syndrome. Of note, 2 patients also showed chilblains resembling signs observed in interferonopathy. Remarkably, our data show that STISS patient cells exhibit a profound remodeling of the mTORC1 and mitophagy pathways with an induction of type I interferon-stimulated genes. Conclusion: We refine the phenotype of STISS and show that it can be clinically recognizable and biochemically diagnosed by a type I interferon gene signature. Competing Interests: Conflict of Interest The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics. The other authors declare no conflicts of interest. (Copyright © 2021 American College of Medical Genetics and Genomics. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Intellectual disability; Interferon; PSMD12; Proteasome; Thumb |
| تواريخ الأحداث: | Date Created: 20211215 Date Completed: 20220322 Latest Revision: 20220322 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1016/j.gim.2021.09.005 |
| PMID: | 34906456 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0366 |
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| DOI: | 10.1016/j.gim.2021.09.005 |