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Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype

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dc.abstract.enDe novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases, affect the human phenotype. Delineation of the exact structure of BCAs may provide a precise diagnosis and/or point to new disease loci. We report on six patients with de novo balanced chromosomal translocations (BCTs) and one patient with a de novo inversion, in whom we mapped breakpoints to a resolution of 1 bp, using shallow whole-genome mate pair sequencing. In all seven cases, a disruption of at least one gene was found. In two patients, the phenotypic impact of the disrupted genes is well known (NFIA, ATP7A). In five patients, the aberration damaged genes: PARD3, EPHA6, KLF13, STK24, UBR3, MLLT10 and TLE3, whose influence on the human phenotype is poorly understood. In particular, our results suggest novel candidate genes for retinal degeneration with anophthalmia (EPHA6), developmental delay with speech impairment (KLF13), and developmental delay with brain dysembryoplastic neuroepithelial tumor (UBR3). In conclusion, identification of the exact structure of symptomatic BCTs using next generation sequencing is a viable method for both diagnosis and finding novel disease candidate genes in humans.
dc.affiliationUniwersytet Warszawski
dc.contributor.authorWicher, Dorota
dc.contributor.authorMatuszewska, Karolina
dc.contributor.authorChrzanowska, Krystyna
dc.contributor.authorCieślikowska, Agata
dc.contributor.authorKucharczyk, Marzena
dc.contributor.authorWojciechowska, Katarzyna
dc.contributor.authorKosińska, Joanna
dc.contributor.authorPollak, Agnieszka
dc.contributor.authorStawiński, Piotr
dc.contributor.authorMłynek, Marlena
dc.contributor.authorPachota, Katarzyna
dc.contributor.authorPoszewiecka, Barbara
dc.contributor.authorRydzanicz, Małgorzata
dc.contributor.authorPienkowski, Victor Murcia
dc.contributor.authorKrajewska-Walasek, Małgorzata
dc.contributor.authorPłoski, Rafał
dc.contributor.authorMaterna-Kiryluk, Anna
dc.contributor.authorLejman, Monika
dc.contributor.authorStembalska, Agnieszka
dc.contributor.authorGambin, Anna
dc.date.accessioned2024-01-24T18:55:04Z
dc.date.available2024-01-24T18:55:04Z
dc.date.copyright2020-04-25
dc.date.issued2020
dc.description.accesstimeAT_PUBLICATION
dc.description.financePublikacja bezkosztowa
dc.description.number5
dc.description.versionFINAL_PUBLISHED
dc.description.volume9
dc.identifier.doi10.3390/JCM9051245
dc.identifier.urihttps://repozytorium.uw.edu.pl//handle/item/102525
dc.identifier.weblinkhttps://www.mdpi.com/
dc.languageeng
dc.pbn.affiliationcomputer and information sciences
dc.relation.ispartofJournal of Clinical Medicine
dc.relation.pages1-12
dc.rightsCC-BY
dc.sciencecloudnosend
dc.titleBreakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
dc.typeJournalArticle
dspace.entity.typePublication