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Tytuł:
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
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Autorzy:
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Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
O'Donnell-Luria A; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Aleck KA; Department of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA.
Antaki D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
Al Sharhan H; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Au PB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA.
Brand H; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Buyske S; Department of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA.
Chodirker B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Choi J; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, South Korea.
Chudley AE; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Clericuzio CL; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Curry C; University of California, San Francisco, California, USA.; Genetic Medicine, University Pediatric Specialists, Fresno, California, USA.
de Boer E; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.
de Vries BBA; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Raboud University Medical Centre, Nijmegen, Netherlands.
Dunn K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Dutmer CM; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA.
England EM; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.
Fahrner JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Gibson WT; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
Greenberg CR; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Hall A; Waisman Center Clinical Genetics, University of Wisconsin, Madison, Wisconsin, USA.
Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Lauzon JL; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Lewis MES; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
Lowry RB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
López-Giráldez F; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.
Matise TC; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.
McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
McInnes B; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Mhanni A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Garcia Minaur S; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), Madrid, Spain.
Moilanen J; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Nguyen A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Õunap K; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.
Penney LS; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
Poterba T; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia and University of Perugia, Perugia, Italy.
Doriqui MJR; Complexo Hospitalar Materno Infantil do MA - Matern, Benedito Leite e Hospital Infantil Juvencio Mattos, Sao Luis, Brazil.
Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey.
Wargowski D; Division of Genetics, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Wong I; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Xing J; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Zhang Y; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.
Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.
Nickerson DA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
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Corporate Authors:
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Care4Rare Consortium; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Centers for Mendelian Genomics
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Źródło:
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American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 119-133. Date of Electronic Publication: 2020 Oct 24.
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Typ publikacji:
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Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
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MeSH Terms:
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Genetic Predisposition to Disease*
Eczema/*diagnosis
Eczema/*genetics
Growth Disorders/*diagnosis
Growth Disorders/*genetics
Histone Deacetylases/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Microcephaly/*diagnosis
Microcephaly/*genetics
Repressor Proteins/*genetics
Adolescent ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Eczema/pathology ; Exome/genetics ; Facies ; Female ; Genome, Human/genetics ; Genomics/methods ; Growth Disorders/pathology ; Humans ; Infant ; Intellectual Disability/pathology ; Male ; Microcephaly/pathology ; Phenotype ; Exome Sequencing
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References:
-
Bioinformatics. 2009 Jul 15;25(14):1754-60. (PMID: 19451168)
Clin Dysmorphol. 2016 Apr;25(2):68-72. (PMID: 26641461)
Am J Hum Genet. 2017 Mar 2;100(3):406-413. (PMID: 28190455)
Nature. 2015 Oct 1;526(7571):82-90. (PMID: 26367797)
JAMA. 2014 Nov 12;312(18):1870-9. (PMID: 25326635)
Am J Hum Genet. 2016 Mar 3;98(3):541-552. (PMID: 26942287)
Genet Med. 2016 Jul;18(7):696-704. (PMID: 26633542)
Mol Cell. 2001 Dec;8(6):1175-85. (PMID: 11779494)
Nucleic Acids Res. 2019 Jan 8;47(D1):D607-D613. (PMID: 30476243)
Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. (PMID: 29044468)
PLoS One. 2014 Jun 03;9(6):e98686. (PMID: 24892279)
Hum Genet. 2017 Aug;136(8):921-939. (PMID: 28600779)
Am J Hum Genet. 2009 Apr;84(4):524-33. (PMID: 19344873)
Genet Med. 2016 Aug;18(8):788-95. (PMID: 26656649)
Am J Hum Genet. 2019 Sep 5;105(3):448-455. (PMID: 31491408)
Am J Med Genet A. 2016 Oct;170(10):2681-93. (PMID: 27311832)
Mol Psychiatry. 2017 Nov;22(11):1604-1614. (PMID: 27457812)
Am J Hum Genet. 2012 May 4;90(5):856-63. (PMID: 22541562)
Clin Dysmorphol. 1998 Jan;7(1):45-50. (PMID: 9546830)
Genome Biol. 2016 Jun 06;17(1):122. (PMID: 27268795)
PLoS Genet. 2018 Dec 6;14(12):e1007850. (PMID: 30521570)
Eur J Pediatr. 2014 Sep;173(9):1253-6. (PMID: 24973050)
Am J Hum Genet. 2012 Feb 10;90(2):308-13. (PMID: 22265015)
Nature. 2020 May;581(7809):434-443. (PMID: 32461654)
Genet Med. 2019 Apr;21(4):798-812. (PMID: 30655598)
Nature. 2016 Aug 17;536(7616):285-91. (PMID: 27535533)
Genet Med. 2019 Jun;21(6):1295-1307. (PMID: 30349098)
Hum Mutat. 2013 Sep;34(9):1242-9. (PMID: 23649928)
Am J Med Genet A. 2019 Jun;179(6):1058-1062. (PMID: 30892814)
Am J Med Genet. 1996 May 3;63(1):277-89. (PMID: 8723121)
Z Kinderheilkd. 1973 Dec 12;116(1):1-12. (PMID: 4771703)
Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685)
Genome Med. 2017 May 30;9(1):43. (PMID: 28554332)
Hum Mutat. 2018 Dec;39(12):1827-1834. (PMID: 30240502)
Monatsschr Kinderheilkd (1902). 1977 Oct;125(10):885-7. (PMID: 917026)
Am J Med Genet A. 2019 Apr;179(4):634-638. (PMID: 30737887)
Hum Mutat. 2015 Oct;36(10):915-21. (PMID: 26295439)
Hum Genet. 2015 Sep;134(9):967-80. (PMID: 26077850)
Am J Hum Genet. 2014 Nov 6;95(5):565-78. (PMID: 25439725)
Nature. 2012 Sep 13;489(7415):313-7. (PMID: 22885700)
JAMA. 2014 Nov 12;312(18):1880-7. (PMID: 25326637)
Am J Hum Genet. 2012 Apr 6;90(4):693-700. (PMID: 22425360)
Clin Genet. 2014 Aug;86(2):134-41. (PMID: 24102521)
Orphanet J Rare Dis. 2007 Jan 15;2:5. (PMID: 17224058)
Am J Hum Genet. 2017 Jul 6;101(1):65-74. (PMID: 28669405)
Hum Mutat. 2015 May;36(5):562-8. (PMID: 25754594)
Genet Med. 2017 Jun;19(6):701-710. (PMID: 27906199)
Nature. 2015 Oct 1;526(7571):68-74. (PMID: 26432245)
Am J Med Genet A. 2018 Jun;176(6):1438-1442. (PMID: 29696806)
Am J Hum Genet. 2015 Apr 2;96(4):612-22. (PMID: 25817016)
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):387-397. (PMID: 30580484)
Hum Mutat. 2015 Oct;36(10):928-30. (PMID: 26220891)
Am J Hum Genet. 2012 May 4;90(5):925-33. (PMID: 22541558)
Cancer Discov. 2015 Feb;5(2):135-42. (PMID: 25472942)
Z Kinderheilkd. 1971;110(3):175-87. (PMID: 5088752)
Am J Hum Genet. 2012 May 4;90(5):847-55. (PMID: 22541559)
Cell. 1995 Apr 7;81(1):15-25. (PMID: 7720070)
Nat Genet. 2010 Sep;42(9):790-3. (PMID: 20711175)
J Med Genet. 1965 Mar;2(1):12-7. (PMID: 14296916)
Development. 2002 Dec;129(24):5827-38. (PMID: 12421720)
Pediatr Neurosurg. 2003 May;38(5):238-43. (PMID: 12686766)
J Neurol Sci. 2011 Oct 15;309(1-2):12-5. (PMID: 21855090)
Am J Med Genet A. 2012 Jul;158A(7):1523-5. (PMID: 22628075)
Nucleic Acids Res. 2017 Jan 4;45(D1):D712-D722. (PMID: 27899636)
Am J Hum Genet. 2016 Mar 3;98(3):553-561. (PMID: 26924530)
Cytogenet Genome Res. 2019;159(1):19-25. (PMID: 31487712)
Mol Autism. 2018 Dec 13;9:64. (PMID: 30564305)
J Hum Genet. 2017 Apr;62(4):465-471. (PMID: 28003643)
Am J Hum Genet. 2014 Jun 5;94(6):809-17. (PMID: 24906018)
J Med Genet. 2012 Jun;49(6):380-5. (PMID: 22577224)
PLoS Comput Biol. 2013;9(7):e1003153. (PMID: 23874191)
Brief Bioinform. 2013 Mar;14(2):178-92. (PMID: 22517427)
J Pediatr. 1985 Apr;106(4):622-3. (PMID: 4038999)
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. (PMID: 29165669)
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Grant Information:
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UM1 HG008900 United States HG NHGRI NIH HHS; UM1 HG006504 United States HG NHGRI NIH HHS; K12 HD052896 United States HD NICHD NIH HHS; UL1 TR001863 United States TR NCATS NIH HHS; R01 HG009141 United States HG NHGRI NIH HHS; UM1 HG006542 United States HG NHGRI NIH HHS; U24 HG008956 United States HG NHGRI NIH HHS; K08 HG008986 United States HG NHGRI NIH HHS; UM1 HG006493 United States HG NHGRI NIH HHS; U54 HD090255 United States HD NICHD NIH HHS; Canada CIHR
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Contributed Indexing:
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Keywords: Dubowitz syndrome; exome sequencing; genetic heterogeneity; genome sequencing; microarray
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Substance Nomenclature:
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0 (Repressor Proteins)
EC 3.5.1.98 (HDAC8 protein, human)
EC 3.5.1.98 (Histone Deacetylases)
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SCR Disease Name:
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Dubowitz syndrome
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Entry Date(s):
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Date Created: 20201024 Date Completed: 20210629 Latest Revision: 20240402
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Update Code:
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20240402
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PubMed Central ID:
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PMC8197629
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DOI:
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10.1002/ajmg.a.61926
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PMID:
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33098347
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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.
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