A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Autor: Drivas TG; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nair D; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Alaimo JT; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA., Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Blesson A; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA., Bouman AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Brockmann K; Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany., Brunelle P; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France., Burmeister M; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA., Denecke J; Department of Pediatrics, University Medical Center Hamburg, Eppendorf, Germany., Dieux-Coëslier A; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France., Dubbs H; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ferrer A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Gal D; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, 3525433, Israel., Bartik LE; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA., Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA., Karimov C; Department of Medical Genetics, , Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90027, USA., Keena B; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Kloth K; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany., Lace B; Clinical Geneticist Medical Genetics Department, CHUQ-CHUL, Quebec, Canada., Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Marcadier JL; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada., Milunsky JM; Center for Human Genetics, Cambridge, MA, USA., Napier MP; Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada., Ortiz-Gonzalez XR; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Powis Z; Ambry Genetics, Aliso Viejo, CA, USA., Prasad C; Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Renaud DL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Rush ET; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis, and Genetics, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA., Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA., Selcen D; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA., Seman AR; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA., Shinde DN; Ambry Genetics, Aliso Viejo, CA, USA., Smith ED; Ambry Genetics, Aliso Viejo, CA, USA., Smol T; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France., Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Stoler JM; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA., Tang S; Ambry Genetics, Aliso Viejo, CA, USA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA., van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Wang J; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China., Weise D; Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany., Weiss K; The Genetics Institute, Rambam Health Care Campus, 3109601, Haifa, Israel., Woitschach R; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, 37073, Göttingen, Germany., Yan H; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zackai EH; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Campeau P; Department of Pediatrics, Medical Genetics Division, University of Montreal, Montreal, Canada., Bhoj E; Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Oct; Vol. 28 (10), pp. 1422-1431. Date of Electronic Publication: 2020 Jun 01.
DOI: 10.1038/s41431-020-0654-4
Abstrakt: There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.
Databáze: MEDLINE