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Ćomić, J.* ; Tilch, E.* ; Riedhammer, K.M.* ; Brugger, M.* ; Brunet, T.* ; Eyring, K.* ; Vill, K.* ; Redler, S.* ; Tasic, V.* ; Schmiedeke, E.* ; Schäfer, F.M.* ; Abazi-Emini, N.* ; Jenetzky, E.* ; Schwarzer, N.* ; Widenmann, A.* ; Lacher, M.* ; Zech, M. ; Grasshoff-Derr, S.* ; Geßner, M.* ; Kabs, C.* ; Seitz, B.* ; Heydweiller, A.C.* ; Muensterer, O.* ; Lange-Sperandio, B.* ; Rolle, U.* ; Schumacher, J.* ; Braunisch, M.C.* ; Berutti, R.* ; Reutter, H.* ; Hoefele, J.*

Trio exome sequencing in VACTERL association.

Kidney Int. Rep. 10, 877-891 (2025)
Verlagsversion DOI PMC
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Creative Commons Lizenzvertrag
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Introduction: Currently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association. The aim of this study was to extend the spectrum of disease-causing variants in known genes, to determine the diagnostic yield of monogenic causes, and to identify candidate genes and rare variants by applying comprehensive genetic testing or rare variant burden. Methods: The total cohort comprised 101 affected individuals and their parents. Trio exome sequencing was only performed in 96 individuals and their parents because of DNA quality reasons and case-control gene and pathway burden tests were calculated and evaluated by quantile-quantile plots, principal component analysis plots and family-based association test (FBAT). Results: In 5 of 96 individuals, disease-causing variants in known genes or loci were identified to be associated with the following 4 disorders: Kabuki syndrome, Sotos syndrome, MELAS syndrome, and deletion syndrome encompassing TWIST1. In 91 individuals, no disease-causing variants were found. FBAT showed 14 significant variants, 2 significant genes (LOC645752 and ZNF417), and 8 significant pathways. Conclusion: This study shows that most individuals with VACTERL association do not have known discrete genetic syndromes, implying that pathomechanisms or variants not identifiable by exome sequencing may exist requiring further investigation.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Burden Test ; Exome Sequencing ; Mitochondriopathy ; Vacterl Association ; Vacterl-like Phenotype ; Znf417
Sprache englisch
Veröffentlichungsjahr 2025
Prepublished im Jahr 2024
HGF-Berichtsjahr 2024
ISSN (print) / ISBN 2468-0249
e-ISSN 2468-0249
Zeitschrift Kidney international reports
Quellenangaben Band: 10, Heft: 3, Seiten: 877-891 Artikelnummer: , Supplement: ,
Verlag Elsevier
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
DOI 10.1016/j.ekir.2024.12.006
Scopus ID 85214826293
PubMed ID 40225364
WOS ID 001441869300001
Erfassungsdatum 2025-01-20
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