ArticleAmerican journal of medical genetics. Part A2021
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
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Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13citing papers in PubMed
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13 citing papers in PubMed, 22 citations in OpenAlex.
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Authors and funding
76 authors at 20 institutions in 13 countries.
David A DymentDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.ORCID 0000-0001-9085-3602
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.ORCID 0000-0001-6418-9592
Pankaj B AgrawalDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Zeynep Coban AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kyrieckos A AleckDepartment of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA.
Danny AntakiLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
Hind Al SharhanMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Ping-Yee B AuDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Hatip AydinCentre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
Alan H BeggsDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Kaya BilguvarDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA.
Harrison BrandBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
Catherine A BrownsteinDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Steve BuyskeDepartment of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA.
Bernard ChodirkerDepartment of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Jungmin ChoiDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
Albert E ChudleyDepartment of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Carol L ClericuzioDepartment of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
Gerald F CoxDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Cynthia CurryUniversity of California, San Francisco, California, USA.
Elke de BoerDepartment of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.
Bert B A de VriesDepartment of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.ORCID 0000-0002-0000-2917
Kathryn DunnThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Cullen M DutmerChildren's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA.
Eleina M EnglandBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
Jill A FahrnerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Bilgen B GeckinliDepartment of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.ORCID 0000-0003-0317-5677
Casie A GenettiDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Alper GezdiriciDepartment of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
William T GibsonDepartment of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
Joseph G GleesonLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
Cheryl R GreenbergDepartment of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
April HallWaisman Center Clinical Genetics, University of Wisconsin, Madison, Wisconsin, USA.
Ada HamoshMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Taila HartleyChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kristin KernohanChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Julie L LauzonDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
M E Suzanne LewisDepartment of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
R Brian LowryDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Francesc López-GiráldezDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
Tara C MatiseDepartment of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.
Jennifer McEvoy-VenneriLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
Brenda McInnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Aziz MhanniDepartment of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Sixto Garcia MinaurSección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), Madrid, Spain.
Jukka MoilanenDepartment of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.
An NguyenLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
Malgorzata J M NowaczykDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-4814-6765
Katrin ÕunapUnited Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Sander PajusaluDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.ORCID 0000-0002-5435-0781
Lynette S PenneyDepartment of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
Timothy PoterbaBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
Paolo PronteraMedical Genetics Unit, Hospital Santa Maria della Misericordia and University of Perugia, Perugia, Italy.
Maria Juliana Rodovalho DoriquiComplexo Hospitalar Materno Infantil do MA - Matern, Benedito Leite e Hospital Infantil Juvencio Mattos, Sao Luis, Brazil.
Sarah L SawyerDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Nara SobreiraMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Valentina StanleyLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.
Deniz TorunDepartment of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey.
David WargowskiDivision of Genetics, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
P Dane WitmerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Isaac WongBroad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
Jinchuan XingDepartment of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Yeting ZhangDepartment of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.
Care4Rare ConsortiumChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Centers for Mendelian Genomics
Kym M BoycottDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.ORCID 0000-0003-4186-8052
Michael J BamshadDepartment of Pediatrics, University of Washington, Seattle, Washington, USA.
Deborah A NickersonBrotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.
Elizabeth E BlueDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.ORCID 0000-0001-9881-5467
Boston Children's Hospital · USBaylor College of Medicine · USBroad Institute · USChildren's Hospital of Eastern Ontario · CAChildren’s Institute · USJohns Hopkins University · USUniversity of Calgary · CARutgers, The State University of New Jersey · USUniversity of Manitoba · CARadboud University Nijmegen · NLTartu University Hospital · EEUniversity of British Columbia · CAUniversity of Washington · USUniversity of Wisconsin–Madison · USYale Cancer Center · USBaylor University · USChildren's Hospital Colorado · USDalhousie University · CAİstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi · TRKorea University · KR
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MThe Child Heath Research CenterK12HD052896 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Wendy K Chung · 2007 to 2026
$7.9MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SAHIN, MUSTAFA · 2016 to 2020
$5.2MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MIndividual 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
$831kCIHRNCATS NIH HHS UL1 TR001863NHGRI NIH HHS K08 HG008986NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006504NHGRI NIH HHS UM1 HG006542NHGRI NIH HHS UM1 HG008900NICHD NIH HHS K12 HD052896NICHD NIH HHS U54 HD090255
Abstract
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.
Indexed as
Genetic Predisposition to DiseaseAdolescentChildChild, PreschoolDNA Copy Number VariationsEczemaExomeExome SequencingFaciesFemaleGenome, HumanGenomicsGrowth DisordersHistone DeacetylasesHumansInfantHDAC8 protein, humanHistone DeacetylasesRepressor ProteinsDubowitz syndromeexome sequencinggenetic heterogeneitygenome sequencingmicroarray
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