{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:56Z","timestamp":1787028236342,"version":"build-2736575974"},"reference-count":36,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:00:00Z","timestamp":1698105600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute of Cardiology","award":["2.60\/VII\/20"],"award-info":[{"award-number":["2.60\/VII\/20"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is growing knowledge on pathogenic variants causing the disease; however, much of the phenotypic variability and gene\u2013gene interactions remain to be discovered. We present a case report of a 5.5-year-old girl with an aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing was performed, followed by family screening by amplicon deep sequencing and diagnostic imaging studies. In the proband, two pathogenic variants were identified: p.Tyr257Ter in the LOX gene inherited from her mother, and p.Thr2977Ile in the PKD1 gene inherited from her father. All adult carriers of either of these variants showed symptoms of aortic disease. We conclude that the coexistence of two independent genetic variants in the proband may be the reason for an early onset of disease.<\/jats:p>","DOI":"10.3390\/genes14111983","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T11:34:47Z","timestamp":1698147287000},"page":"1983","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0890-611X","authenticated-orcid":false,"given":"Joanna Kinga","family":"Poni\u0144ska","sequence":"first","affiliation":[{"name":"Department of Medical Biology, National Institute of Cardiology, 04-628 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weronika","family":"Pelczar-P\u0142achta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Poznan University of Medical Sciences, 61-701 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, 02-106 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9412-8931","authenticated-orcid":false,"given":"Katarzyna","family":"Jo\u0144czyk-Potoczna","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, Poznan University of Medical Sciences, 61-701 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gra\u017cyna","family":"Truszkowska","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, National Institute of Cardiology, 04-628 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Micha\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Radiology, National Institute of Cardiology, 04-628 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Szafran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Poznan University of Medical Sciences, 61-701 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1451-2069","authenticated-orcid":false,"given":"Zofia T.","family":"Bili\u0144ska","sequence":"additional","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waldemar","family":"Bobkowski","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Poznan University of Medical Sciences, 61-701 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, 02-106 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1055\/s-0039-3400233","article-title":"Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications","volume":"7","author":"Brownstein","year":"2019","journal-title":"Aorta"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1055\/s-0038-1639612","article-title":"Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications","volume":"6","author":"Brownstein","year":"2018","journal-title":"Aorta"},{"key":"ref_3","first-page":"271","article-title":"The genetics and genomics of thoracic aortic disease","volume":"2","author":"Pomianowski","year":"2013","journal-title":"Ann. 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