A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.,European Journal of Human Genetics

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-06-01 , DOI: 10.1038/s41431-020-0654-4
Theodore G Drivas ₁ , Dong Li ₁ , Divya Nair ₁ , Joseph T Alaimo _{2,

3} , Mariëlle Alders ₄ , Janine Altmüller ₅ , Tahsin Stefan Barakat ₆ , E Martina Bebin ₇ , Nicole L Bertsch ₈ , Patrick R Blackburn ₉ , Alyssa Blesson ₁₀ , Arjan M Bouman ₆ , Knut Brockmann ₁₁ , Perrine Brunelle _{12,

13} , Margit Burmeister _{14,

15} , Gregory M Cooper ₁₆ , Jonas Denecke ₁₇ , Anne Dieux-Coëslier _{12,

13} , Holly Dubbs ₁₈ , Alejandro Ferrer ₁₉ , Danna Gal ₂₀ , Lauren E Bartik _{2,

21} , Lauren B Gunderson ₈ , Linda Hasadsri ₉ , Mahim Jain ₁₀ , Catherine Karimov ₂₂ , Beth Keena ₁ , Eric W Klee ₁₉ , Katja Kloth ₂₃ , Baiba Lace ₂₄ , Marina Macchiaiolo ₂₅ , Julien L Marcadier ₂₆ , Jeff M Milunsky ₂₇ , Melanie P Napier ₂₈ , Xilma R Ortiz-Gonzalez _{18,

29} , Pavel N Pichurin ₈ , Jason Pinner ₃₀ , Zoe Powis ₃₁ , Chitra Prasad ₂₈ , Francesca Clementina Radio ₂₅ , Kristen J Rasmussen ₉ , Deborah L Renaud ₈ , Eric T Rush _{2,

21,

32} , Carol Saunders _{2,

3,

21} , Duygu Selcen ₃₃ , Ann R Seman ₃₄ , Deepali N Shinde ₃₁ , Erica D Smith ₃₁ , Thomas Smol _{12,

13} , Lot Snijders Blok _{35,

36} , Joan M Stoler ₃₄ , Sha Tang ₃₁ , Marco Tartaglia ₂₅ , Michelle L Thompson ₁₆ , Jiddeke M van de Kamp ₃₇ , Jingmin Wang _{38,

39} , Dagmar Weise ₁₁ , Karin Weiss ₄₀ , Rixa Woitschach ₂₃ , Bernd Wollnik _{41,

42} , Huifang Yan _{14,

38} , Elaine H Zackai ₁ , Giuseppe Zampino ₄₃ , Philippe Campeau ₄₄ , Elizabeth Bhoj ₁

Affiliation

Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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.
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
University of Alabama at Birmingham, Birmingham, AL, USA.
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.
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.
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.
HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Department of Pediatrics, University Medical Center Hamburg, Eppendorf, Germany.
Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, 3525433, Israel.
Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.
Department of Medical Genetics, , Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90027, USA.
Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany.
Clinical Geneticist Medical Genetics Department, CHUQ-CHUL, Quebec, Canada.
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.
Center for Human Genetics, Cambridge, MA, USA.
Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada.
Department of Neurology, Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.
Ambry Genetics, Aliso Viejo, CA, USA.
Division of Endocrinology, Metabolism, Osteoporosis, and Genetics, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.
Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
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.
The Genetics Institute, Rambam Health Care Campus, 3109601, Haifa, Israel.
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.
Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.
Department of Pediatrics, Medical Genetics Division, University of Montreal, Montreal, Canada.

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.

中文翻译：

第二组 CHD3 患者扩展了已知导致 Snijders Blok-Campeau 综合征的分子机制。

之前有一份报告称，一组患者的染色体域解旋酶 DNA 结合 3 ( CHD3 ) 存在变异，现在被认为是 Snijders Blok-Campeau 综合征。然而，只有三名先前报告的患者在 ATP 酶/解旋酶域外有变异，尚不清楚该域外的变异是否会导致临床上相似的表型。我们分析了 24 名新的CHD3变异患者，其中包括 ATPase/解旋酶结构域之外的 9 名患者。所有患者均采用无偏分子遗传学方法进行检测。具有该域内外变异的患者的临床或面部特征没有显着差异。这些额外的患者进一步扩展了与CHD3相关的临床和分子数据变体。重要的是，我们得出结论，具有各种分子破坏（包括全基因缺失和重复，以及 ATP 酶/解旋酶域外的错义变异）的患者的表型特征没有显着差异。这些数据将有助于临床遗传学家和分子遗传学家诊断这种新出现的综合征。

更新日期：2020-06-01

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