Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

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Fältnamn	Indikatorer	Metadata
000		05316naa a2200565 4500
001		oai:DiVA.org:uu-498876
003		SwePub
008		230324s2022 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4988762 URI
024	7	a https://doi.org/10.1038/s41598-022-25308-w2 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Koczkowska, Magdalenau Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
245	1 0	a Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
264		c 2022-12-02
264	1	b Springer Nature,c 2022
338		a electronic2 rdacarrier
520		a Numeric sex chromosome abnormalities are commonly associated with an increased cancer risk. Here, we report a 14-year-old boy with a rare mosaic 45, X/48, XYYY karyotype presenting with subtle dysmorphic features and relative height deficiency, requiring growth hormone therapy. As only 12 postnatal cases have been described so far with very limited follow-up data, to assess the proband's long-term prognosis, including cancer risk, we performed high-throughput single-cell RNA sequencing (scRNA-seq) analysis. Although comprehensive cytogenetic analysis showed seemingly near perfect balance between 45, X and 48, XYYY cell populations, scRNA-seq revealed widespread differences in genotype distribution among immune cell fractions, specifically in monocytes, B- and T-cells. These results were confirmed at DNA level by digital-droplet PCR on flow-sorted immune cell types. Furthermore, deregulation of predominantly autosomal genes was observed, including TCL1A overexpression in 45, X B-lymphocytes and other known genes associated with hematological malignancies. Together with the standard hematological results, showing increased fractions of monocytes and CD4+/CD8+T lymphocytes ratio, long-term personalized hemato-oncological surveillance was recommended in the reported patient.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Jakalski, Marcinu Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Birkholz-Walerzak, Dorotau Med Univ Gdansk, Dept Paediat Diabetol & Endocrinol, Gdansk, Poland.4 aut
700	1	a Kostecka, Annau Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Iliszko, Mariolau Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.4 aut
700	1	a Wojcik, Magdalenau Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Lewandowski, Krzysztofu Med Univ Gdansk, Dept Lab Med, Gdansk, Poland.4 aut
700	1	a Milska-Musa, Katarzynau Med Univ Gdansk, Dept Qual Life Res, Fac Hlth Sci, Inst Maritime & Trop Med, Gdansk, Poland.4 aut
700	1	a Buckley, Patrick G.u Genuity Sci, Genom Ctr, Dublin, Ireland.4 aut
700	1	a Drezek, Kingau Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Juhas, Ulanau Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Kuziemska, Ewau Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.4 aut
700	1	a Maciejewska, Agnieszkau Med Univ Gdansk, Dept Forens Med, Gdansk, Poland.4 aut
700	1	a Pawlowski, Ryszardu Med Univ Gdansk, Dept Forens Med, Gdansk, Poland.4 aut
700	1	a Wasag, Bartoszu Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.4 aut
700	1	a Filipowicz, Nataliau Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Chojnowska, Katarzynau Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Lawrynowicz, Urszulau Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Dumanski, Jan P.u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut0 (Swepub:uu)janduman
700	1	a Lipska-Zietkiewicz, Beata S.u Med Univ Gdansk, Rare Dis Ctr, Gdansk, Poland.;Med Univ Gdansk, Dept Biol & Med Genet, Clin Genet Unit, Gdansk, Poland.4 aut
700	1	a Mieczkowski, Jakubu Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
700	1	a Piotrowski, Arkadiuszu Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 aut
710	2	a Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.b Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.4 org
773	0	t Scientific Reportsd : Springer Natureg 12:1q 12:1x 2045-2322
856	4	u https://doi.org/10.1038/s41598-022-25308-wy Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:1745831/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-498876
856	4 8	u https://doi.org/10.1038/s41598-022-25308-w

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