prikaz prve stranice dokumenta Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
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Scientific paper - Original scientific paper
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
Kidney International, 102 (2022), 2; 405-420. https://doi.org/10.1016/j.kint.2022.04.031
Wopperer, Florian J.; Knaup, Karl X.; Stanzick, Kira J.; Schneider, Karen; Jobst-Schwan, Tilman; Ekici, Arif B.; Uebe, Steffen; Wenzel, Andrea; Schliep, Stefan; Schürfeld, Carsten; Seitz, Randolf; Bernhardt, Wanja; Gödel, Markus; Wiesener, Antje; Popp, Bernt; Stark, Klaus J.; Gröne, Hermann-Josef; Friedrich, Björn; Weiß, Martin; Bašić-Jukić, Nikolina; Schiffer, Mario; Schröppel, Bernd; Huettel, Bruno; Beck, Bodo B.; Sayer, John A.; Ziegler, Christine; Büttner-Herold, Maike; Amann, Kerstin; Heid, Iris M.; Reis, André; Pasutto, Francesca; Wiesener, Michael S. More authors...

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Wopperer, F. J., Knaup, K. X., Stanzick, K. J., Schneider, K., Jobst Schwan, T., Ekici, A. B. ... Wiesener, M. S. (2022). Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International, 102. (2), 405-420. doi: 10.1016/j.kint.2022.04.031

Wopperer, Florian J., et al. "Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases." Kidney International, vol. 102, no. 2, 2022, pp. 405-420. https://doi.org/10.1016/j.kint.2022.04.031

Wopperer, Florian J., Karl X. Knaup, Kira J. Stanzick, Karen Schneider, Tilman Jobst Schwan, Arif B. Ekici, Steffen Uebe, et al. "Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases." Kidney International 102, no. 2 (2022): 405-420. https://doi.org/10.1016/j.kint.2022.04.031

Wopperer, F. J., et al. (2022) 'Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases', Kidney International, 102(2), pp. 405-420. doi: 10.1016/j.kint.2022.04.031

Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst Schwan T, Ekici AB, and sur.. Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International [Internet]. 2022 August [cited 2024 October 07];102(2):405-420. doi: 10.1016/j.kint.2022.04.031

F. J. Wopperer, et al., "Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases", Kidney International, vol. 102, no. 2, pp. 405-420, August 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:876650. [Accessed: 07 October 2024]

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Metadata
Title (english)Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
AuthorFlorian J. Wopperer
AuthorKarl X. Knaup
AuthorKira J. Stanzick
AuthorKaren Schneider
AuthorTilman Jobst-Schwan
AuthorArif B. Ekici
AuthorSteffen Uebe
AuthorAndrea Wenzel
AuthorStefan Schliep
AuthorCarsten Schürfeld
AuthorRandolf Seitz
AuthorWanja Bernhardt
AuthorMarkus Gödel
AuthorAntje Wiesener
AuthorBernt Popp
AuthorKlaus J. Stark
AuthorHermann-Josef Gröne
AuthorBjörn Friedrich
AuthorMartin Weiß
AuthorNikolina Bašić-Jukić
AuthorMario Schiffer
AuthorBernd Schröppel
AuthorBruno Huettel
AuthorBodo B. Beck
AuthorJohn A. Sayer
AuthorChristine Ziegler
AuthorMaike Büttner-Herold
AuthorKerstin Amann
AuthorIris M. Heid
AuthorAndré Reis
AuthorFrancesca Pasutto
AuthorMichael S. Wiesener
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract (english)
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where no mutation can be found and therefore termed ADTKD-not otherwise specified. Here, we aim to clarify the genetic cause of their diseases in our ADTKD registry. Sequencing for all known ADTKD genes was performed, followed by SNaPshot minisequencing for the dupC (an additional cytosine within a stretch of seven cytosines) mutation of MUC1. A virtual panel containing 560 genes reported in the context of kidney disease (nephrome) and exome sequencing were then analyzed sequentially. Variants were validated and tested for segregation. In 29 of the 45 registry families, mutations in known ADTKD genes were found, mostly in MUC1. Sixteen families could then be termed ADTKD-not otherwise specified, of which nine showed diagnostic variants in the nephrome (four in COL4A5, two in INF2 and one each in COL4A4, PAX2, SALL1 and PKD2). In the other seven families, exome sequencing analysis yielded potential disease associated variants in novel candidate genes for ADTKD; evaluated by database analyses and genome-wide association studies. For the great majority of our ADTKD registry we were able to reach a molecular genetic diagnosis. However, a small number of families are indeed affected by diseases classically described as a glomerular entity. Thus, incomplete clinical phenotyping and atypical clinical presentation may have led to the classification of ADTKD. The identified novel candidate genes by exome sequencing will require further functional validation.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleKidney International
Numberingvol. 102, no. 2, pp. 405-420
p-ISSN0085-2538
DOIhttps://doi.org/10.1016/j.kint.2022.04.031
URN:NBNurn:nbn:hr:105:876650
Publication2022-08
Document URLhttps://linkinghub.elsevier.com/retrieve/pii/S0085253822003842
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2022-12-08 08:24:16