Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
DC Field | Value | Language |
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dc.contributor.author | Dyment, David A. | - |
dc.contributor.author | O'Donnell-Luria, Anne | - |
dc.contributor.author | Agrawal, Pankaj B. | - |
dc.contributor.author | Coban Akdemir, Zeynep | - |
dc.contributor.author | Aleck, Kyrieckos A. | - |
dc.contributor.author | Antaki, Danny | - |
dc.contributor.author | Al Sharhan, Hind | - |
dc.contributor.author | Au, Ping-Yee B. | - |
dc.contributor.author | Aydin, Hatip | - |
dc.contributor.author | Beggs, Alan H. | - |
dc.contributor.author | Bilguvar, Kaya | - |
dc.contributor.author | Boerwinkle, Eric | - |
dc.contributor.author | Brand, Harrison | - |
dc.contributor.author | Brownstein, Catherine A. | - |
dc.contributor.author | Buyske, Steve | - |
dc.contributor.author | Chodirker, Bernard | - |
dc.contributor.author | Choi, Jungmin | - |
dc.contributor.author | Chudley, Albert E. | - |
dc.contributor.author | Clericuzio, Carol L. | - |
dc.contributor.author | Cox, Gerald F. | - |
dc.contributor.author | Curry, Cynthia | - |
dc.contributor.author | de Boer, Elke | - |
dc.contributor.author | de Vries, Bert B. A. | - |
dc.contributor.author | Dunn, Kathryn | - |
dc.contributor.author | Dutmer, Cullen M. | - |
dc.contributor.author | England, Eleina M. | - |
dc.contributor.author | Fahrner, Jill A. | - |
dc.contributor.author | Geckinli, Bilgen B. | - |
dc.contributor.author | Genetti, Casie A. | - |
dc.contributor.author | Gezdirici, Alper | - |
dc.contributor.author | Gibson, William T. | - |
dc.contributor.author | Gleeson, Joseph G. | - |
dc.contributor.author | Greenberg, Cheryl R. | - |
dc.contributor.author | Hall, April | - |
dc.contributor.author | Hamosh, Ada | - |
dc.contributor.author | Hartley, Taila | - |
dc.contributor.author | Jhangiani, Shalini N. | - |
dc.contributor.author | Karaca, Ender | - |
dc.contributor.author | Kernohan, Kristin | - |
dc.contributor.author | Lauzon, Julie L. | - |
dc.contributor.author | Lewis, M. E. Suzanne | - |
dc.contributor.author | Lowry, R. Brian | - |
dc.contributor.author | Lopez-Giraldez, Francesc | - |
dc.contributor.author | Matise, Tara C. | - |
dc.contributor.author | McEvoy-Venneri, Jennifer | - |
dc.contributor.author | McInnes, Brenda | - |
dc.contributor.author | Mhanni, Aziz | - |
dc.contributor.author | Garcia Minaur, Sixto | - |
dc.contributor.author | Moilanen, Jukka | - |
dc.contributor.author | Nguyen, An | - |
dc.contributor.author | Nowaczyk, Malgorzata J. M. | - |
dc.contributor.author | Posey, Jennifer E. | - |
dc.contributor.author | Ounap, Katrin | - |
dc.contributor.author | Pehlivan, Davut | - |
dc.contributor.author | Pajusalu, Sander | - |
dc.contributor.author | Penney, Lynette S. | - |
dc.contributor.author | Poterba, Timothy | - |
dc.contributor.author | Prontera, Paolo | - |
dc.contributor.author | Doriqui, Maria Juliana Rodovalho | - |
dc.contributor.author | Sawyer, Sarah L. | - |
dc.contributor.author | Sobreira, Nara | - |
dc.contributor.author | Stanley, Valentina | - |
dc.contributor.author | Torun, Deniz | - |
dc.contributor.author | Wargowski, David | - |
dc.contributor.author | Witmer, P. Dane | - |
dc.contributor.author | Wong, Isaac | - |
dc.contributor.author | Xing, Jinchuan | - |
dc.contributor.author | Zaki, Maha S. | - |
dc.contributor.author | Zhang, Yeting | - |
dc.contributor.author | Boycott, Kym M. | - |
dc.contributor.author | Bamshad, Michael J. | - |
dc.contributor.author | Nickerson, Deborah A. | - |
dc.contributor.author | Blue, Elizabeth E. | - |
dc.contributor.author | Innes, A. Micheil | - |
dc.date.accessioned | 2021-12-05T03:00:11Z | - |
dc.date.available | 2021-12-05T03:00:11Z | - |
dc.date.created | 2021-08-30 | - |
dc.date.issued | 2021-01 | - |
dc.identifier.issn | 1552-4825 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/129508 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | WILEY | - |
dc.subject | LOSS-OF-FUNCTION | - |
dc.subject | INTELLECTUAL DISABILITY | - |
dc.subject | MUTATIONS | - |
dc.subject | ANEMIA | - |
dc.subject | NSUN2 | - |
dc.subject | FRAMESHIFT | - |
dc.subject | PHENOTYPE | - |
dc.subject | ANOMALIES | - |
dc.subject | PLATFORM | - |
dc.subject | PATIENT | - |
dc.title | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Choi, Jungmin | - |
dc.identifier.doi | 10.1002/ajmg.a.61926 | - |
dc.identifier.scopusid | 2-s2.0-85097746888 | - |
dc.identifier.wosid | 000581797000001 | - |
dc.identifier.bibliographicCitation | AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.185, no.1, pp.119 - 133 | - |
dc.relation.isPartOf | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | - |
dc.citation.title | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | - |
dc.citation.volume | 185 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 119 | - |
dc.citation.endPage | 133 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | LOSS-OF-FUNCTION | - |
dc.subject.keywordPlus | INTELLECTUAL DISABILITY | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | ANEMIA | - |
dc.subject.keywordPlus | NSUN2 | - |
dc.subject.keywordPlus | FRAMESHIFT | - |
dc.subject.keywordPlus | PHENOTYPE | - |
dc.subject.keywordPlus | ANOMALIES | - |
dc.subject.keywordPlus | PLATFORM | - |
dc.subject.keywordPlus | PATIENT | - |
dc.subject.keywordAuthor | Dubowitz syndrome | - |
dc.subject.keywordAuthor | exome sequencing | - |
dc.subject.keywordAuthor | genetic heterogeneity | - |
dc.subject.keywordAuthor | genome sequencing | - |
dc.subject.keywordAuthor | microarray | - |
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