Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Hoefele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit ORCID: 0000-0002-2216-5389, Hoelscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Joerg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Muensterer, Oliver ORCID: 0000-0003-2790-4395, Ure, Beno, Schmiedeke, Eberhard, Neser, Joerg, Degenhardt, Petra, Maerzheuser, Stefanie, Kleine, Katharina, Schaefer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael, Grote, Phillip ORCID: 0000-0002-9254-1458, Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X and Reutter, Heiko (2020). Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia. PLoS One, 15 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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Abstract

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutationalde novoevents in genes involved in foregut development. Methods To identify mutationalde novoevents in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmedde novovariants were prioritized usingin silicoprediction tools. To investigate the embryonic role of genes harboring prioritizedde novovariants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. Results In total we prioritized 14 novelde novovariants in 14 different genes (APOL2,EEF1D,CHD7,FANCB,GGT6,KIAA0556,NFX1,NPR2,PIGC,SLC5A2,TANC2,TRPS1,UBA3, andZFHX3) and eight rarede novovariants in eight additional genes (CELSR1,CLP1,GPR133,HPS3,MTA3,PLEC,STAB1, andPPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rarede novovariant inZFHX3.In silicoprediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritizedCHD7,TRPS1, andZFHX3as EA/TEF candidate genes. Re-sequencing ofZFHX3in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. Conclusion Our study suggests that rare mutationalde novoevents in genes involved in foregut development contribute to the development of EA/TEF.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Zhang, RongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gehlen, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kawalia, AmitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Melissari, Maria-TheodoraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dakal, Tikam ChandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Menon, Athira M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoefele, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riedhammer, KorbinianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Waffenschmidt, LeaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fabian, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Breuer, KatinkaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kalanithy, JeshurunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hilger, Alina ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sharma, AmitUNSPECIFIEDorcid.org/0000-0002-2216-5389UNSPECIFIED
Hoelscher, AliceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boemers, Thomas M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pauly, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leutner, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fuchs, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seitz, GuidoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ludwikowski, Barbara M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gomez, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hubertus, JochenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heydweiller, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kurz, RalfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leonhardt, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosch, FerdinandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holland-Cunz, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muensterer, OliverUNSPECIFIEDorcid.org/0000-0003-2790-4395UNSPECIFIED
Ure, BenoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmiedeke, EberhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neser, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Degenhardt, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maerzheuser, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kleine, KatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, MattiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spychalski, NicoleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deffaa, Oliver J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gosemann, Jan-HendrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lacher, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heilmann-Heimbach, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zwink, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jenetzky, EkkehartUNSPECIFIEDorcid.org/0000-0001-5415-8784UNSPECIFIED
Ludwig, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grote, PhillipUNSPECIFIEDorcid.org/0000-0002-9254-1458UNSPECIFIED
Schumacher, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDorcid.org/0000-0002-0169-998XUNSPECIFIED
Reutter, HeikoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-330525
DOI: 10.1371/journal.pone.0234246
Journal or Publication Title: PLoS One
Volume: 15
Number: 6
Date: 2020
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1932-6203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
TRACHEOESOPHAGEAL FISTULA; CHARGE; MUTATIONS; SPECTRUM; DBNSFPMultiple languages
Multidisciplinary SciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/33052

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