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4. Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

Author

Fabian, Julia, Dworschak, Gabriel C., Waffenschmidt, Lea, Schierbaum, Luca, Bendixen, Charlotte, Heilmann-Heimbach, Stefanie, Sivalingam, Sugirthan, Buness, Andreas, Schwarzer, Nicole, Boemers, Thomas M., Schmiedeke, Eberhard, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Weih, Sandra, Gielen, Helen Maya, Hosie, Stuart, Kabs, Carmen, Palta, Markus, Märzheuser, Stefanie, Bode, Lena Marie, Lacher, Martin, Schäfer, Frank-Mattias, Stehr, Maximilian, Knorr, Christian, Ure, Benno, Kleine, Katharina, Rolle, Udo, Zaniew, Marcin, Phillip, Grote, Zwink, Nadine, Jenetzky, Ekkehart, Reutter, Heiko, and Hilger, Alina C.

Published
2023
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6. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

Author

Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjöld, Agneta, Newman, William, Woolf, Adrian S., Eckstein, Markus, Hilger, Alina C., Dworschak, Gabriel C., Rösch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M., Hernandez, Jose L., Erben, Philipp, Maj, Carlo, Olmos, Jose M., Riancho, Jose A., Valero, Carmen, Hostettler, Isabel C., Houlden, Henry, Werring, David J., Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C., Arkani, Samara, Åkesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M., Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., van Rooij, Iris A. L. M., Feitz, Wouter F. J., Marcelis, Carlo L. M., Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P., Chan, Melanie M. Y., Ludwig, Kerstin U., Nöthen, Markus M., Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael, and Reutter, Heiko

Published
2022
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7. Omphalozele

Author

Boemers, Thomas M., von Schweinitz, Dietrich, editor, and Ure, Benno, editor

Published
2019
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24. Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

Author

Fabian, Julia, primary, Dworschak, Gabriel C., additional, Waffenschmidt, Lea, additional, Schierbaum, Luca, additional, Bendixen, Charlotte, additional, Heilmann-Heimbach, Stefanie, additional, Sivalingam, Sugirthan, additional, Buness, Andreas, additional, Schwarzer, Nicole, additional, Boemers, Thomas M., additional, Schmiedeke, Eberhard, additional, Neser, Jörg, additional, Leonhardt, Johannes, additional, Kosch, Ferdinand, additional, Weih, Sandra, additional, Gielen, Helen Maya, additional, Hosie, Stuart, additional, Kabs, Carmen, additional, Palta, Markus, additional, Märzheuser, Stefanie, additional, Bode, Lena Marie, additional, Lacher, Martin, additional, Schäfer, Frank-Mattias, additional, Stehr, Maximilian, additional, Knorr, Christian, additional, Ure, Benno, additional, Kleine, Katharina, additional, Rolle, Udo, additional, Zaniew, Marcin, additional, Phillip, Grote, additional, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Reutter, Heiko, additional, and Hilger, Alina C., additional

Published
2022
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26. More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation

Author

Bagci, Soyhan, Brosens, Erwin, Tibboel, Dick, De Klein, Annelies, Ijsselstijn, Hanneke, Wijers, Charlotte H. W., Roeleveld, Nel, de Blaauw, Ivo, Broens, Paul M., van Rooij, Iris A. L. M., Hölscher, Alice, Boemers, Thomas M., Pauly, Marcus, Münsterer, Oliver J., Schmiedeke, Eberhard, Schäfer, Mattias, Ure, Benno E., Lacher, Martin, Choinitzki, Vera, Schumacher, Johannes, Zwink, Nadine, Jenetzky, Ekkehart, Katzer, David, Arand, Joerg, Bartmann, Peter, and Reutter, Heiko M.

Published
2016
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28. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Author

Gehlen, Jan, Giel, Ann-Sophie, Koellges, Ricarda, Haas, Stephan L., Zhang, Rong, Trcka, Jiri, Sungur, Ayse O., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjold, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C. W., Smigiel, Robert, Patkowski, Dariusz, Roeleveld, Nel, van Rooij, Iris Alm, de Blaauw, Ivo, Hoelscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Blaess, Gaby, Landen, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Engstrand Lilja, Helene, Azodi, Sahar, Stenstrom, Pernilla, Arnbjornsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kalicinski, Piotr, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Noethen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra, Boemers, Thomas M., Mokrowiecka, Anna, Malecka-Panas, Ewa, Woehr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin, Reutter, Heiko, Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Koellges, Ricarda, Haas, Stephan L., Zhang, Rong, Trcka, Jiri, Sungur, Ayse O., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjold, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C. W., Smigiel, Robert, Patkowski, Dariusz, Roeleveld, Nel, van Rooij, Iris Alm, de Blaauw, Ivo, Hoelscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Blaess, Gaby, Landen, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Engstrand Lilja, Helene, Azodi, Sahar, Stenstrom, Pernilla, Arnbjornsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kalicinski, Piotr, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Noethen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra, Boemers, Thomas M., Mokrowiecka, Anna, Malecka-Panas, Ewa, Woehr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin, Reutter, Heiko, and Schumacher, Johannes

Abstract

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 x 10(-8); odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10-5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 x 10(-10); OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 x 10(-16); OR = 1.75; 95% CI, 1.64-1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% +/- 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes.

Published
2022
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29. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Author

Gehlen, Jan, primary, Giel, Ann-Sophie, additional, Köllges, Ricarda, additional, Haas, Stephan L., additional, Zhang, Rong, additional, Trcka, Jiri, additional, Sungur, Ayse Ö., additional, Renziehausen, Florian, additional, Bornholdt, Dorothea, additional, Jung, Daphne, additional, Hoyer, Paul D., additional, Nordenskjöld, Agneta, additional, Tibboel, Dick, additional, Vlot, John, additional, Spaander, Manon C.W., additional, Smigiel, Robert, additional, Patkowski, Dariusz, additional, Roeleveld, Nel, additional, van Rooij, Iris ALM., additional, de Blaauw, Ivo, additional, Hölscher, Alice, additional, Pauly, Marcus, additional, Leutner, Andreas, additional, Fuchs, Joerg, additional, Niethammer, Joel, additional, Melissari, Maria-Theodora, additional, Jenetzky, Ekkehart, additional, Zwink, Nadine, additional, Thiele, Holger, additional, Hilger, Alina Christine, additional, Hess, Timo, additional, Trautmann, Jessica, additional, Marks, Matthias, additional, Baumgarten, Martin, additional, Bläss, Gaby, additional, Landén, Mikael, additional, Fundin, Bengt, additional, Bulik, Cynthia M., additional, Pennimpede, Tracie, additional, Ludwig, Michael, additional, Ludwig, Kerstin U., additional, Mangold, Elisabeth, additional, Heilmann-Heimbach, Stefanie, additional, Moebus, Susanne, additional, Herrmann, Bernhard G., additional, Alsabeah, Kristina, additional, Burgos, Carmen M., additional, Lilja, Helene E., additional, Azodi, Sahar, additional, Stenström, Pernilla, additional, Arnbjörnsson, Einar, additional, Frybova, Barbora, additional, Lebensztejn, Dariusz M., additional, Debek, Wojciech, additional, Kolodziejczyk, Elwira, additional, Kozera, Katarzyna, additional, Kierkus, Jaroslaw, additional, Kaliciński, Piotr, additional, Stefanowicz, Marek, additional, Socha-Banasiak, Anna, additional, Kolejwa, Michal, additional, Piaseczna-Piotrowska, Anna, additional, Czkwianianc, Elzbieta, additional, Nöthen, Markus M., additional, Grote, Phillip, additional, Rygl, Michal, additional, Reinshagen, Konrad, additional, Spychalski, Nicole, additional, Ludwikowski, Barbara, additional, Hubertus, Jochen, additional, Heydweiller, Andreas, additional, Ure, Benno, additional, Muensterer, Oliver J., additional, Aubert, Ophelia, additional, Gosemann, Jan-Hendrik, additional, Lacher, Martin, additional, Degenhardt, Petra, additional, Boemers, Thomas M., additional, Mokrowiecka, Anna, additional, Małecka-Panas, Ewa, additional, Wöhr, Markus, additional, Knapp, Michael, additional, Seitz, Guido, additional, de Klein, Annelies, additional, Oracz, Grzegorz, additional, Brosens, Erwin, additional, Reutter, Heiko, additional, and Schumacher, Johannes, additional

Published
2022
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34. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Author

Reutter, Heiko, Draaken, Markus, Pennimpede, Tracie, Wittler, Lars, Brockschmidt, Felix F., Ebert, Anne-Karolin, Bartels, Enrika, Rösch, Wolfgang, Boemers, Thomas M., Hirsch, Karin, Schmiedeke, Eberhard, Meesters, Christian, Becker, Tim, Stein, Raimund, Utsch, Boris, Mangold, Elisabeth, Nordenskjöld, Agneta, Barker, Gillian, Kockum, Christina Clementsson, Zwink, Nadine, Holmdahl, Gundula, Läckgren, Göran, Jenetzky, Ekkehart, Feitz, Wouter F.J., Marcelis, Carlo, Wijers, Charlotte H.W., Van Rooij, Iris A.L.M., Gearhart, John P., Herrmann, Bernhard G., Ludwig, Michael, Boyadjiev, Simeon A., Nöthen, Markus M., and Mattheisen, Manuel

Published
2014
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36. SLC20A1 is involved in urinary tract and urorectal development

Author

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Öznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjöld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Rösch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Rooij, Iris A. L. M. van, Bökenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, and Reutter, Heiko

Subjects
animal structures, ddc:570, embryonic structures, ddc:610
Abstract

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detected SLC20A1 in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequenced SLC20A1 in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelic de novo variants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novel de novo variant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact of SLC20A1 variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggest SLC20A1 is involved in urinary tract and urorectal development and implicate SLC20A1 as a disease-gene for BEEC.

Published
2020

37. SLC20A1Is Involved in Urinary Tract and Urorectal Development

Author

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, Reutter, Heiko, Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, and Reutter, Heiko

Abstract

Previous studies in developingXenopusand zebrafish reported that the phosphate transporterslc20a1ais expressed in pronephric kidneys. The recent identification ofSLC20A1as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role ofSLC20A1in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish orthologslc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detectedSLC20A1in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequencedSLC20A1in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelicde novovariants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novelde novovariant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact ofSLC20A1variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggestSLC20A1is involved in urinary tract and urorectal development and implicateSLC20A1as a disease-gene for BEEC.

Published
2020
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38. Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia

Author

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, 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, 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, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko, 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, 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, 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, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, and Reutter, Heiko

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.

Published
2020

39. Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Author

Pastor Santos-Cortez, Regie Lyn, Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara, Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko, Pastor Santos-Cortez, Regie Lyn, Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara, Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, and Reutter, Heiko

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 mutational de novo events in genes involved in foregut development. Methods: To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants 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 novel de novo variants in 14 different genes (APOL2, EEF1D, CHD7, FANCB, GGT6, KIAA0556, NFX1, NPR2, PIGC, SLC5A2, TANC2, TRPS1, UBA3, and ZFHX3) and eight rare de novo variants in eight additional genes (CELSR1, CLP1, GPR133, HPS3, MTA3, PLEC, STAB1, and PPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rare de novo variant in ZFHX3. In silico prediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritized CHD7, TRPS1, and ZFHX3 as EA/TEF candidate genes. Re-sequencing of ZFHX3 in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. Conclusion: Our study suggests that rare mutational de novo events in genes involved in foregut development contribute to the development of EA/TEF.

Published
2020

43. De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

Author

Schramm, Charlotte, Draaken, Markus, Bartels, Enrika, Boemers, Thomas M., Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Baudisch, Friederike, Priebe, Lutz, Hoffmann, Per, Zink, Alexander M., Engels, Hartmut, Brockschmidt, Felix F., Aretz, Stefan, Nöthen, Markus M., Ludwig, Michael, and Reutter, Heiko

Published
2011
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44. SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Author

Rieke, Johanna Magdalena, primary, Zhang, Rong, additional, Braun, Doreen, additional, Yilmaz, Öznur, additional, Japp, Anna S., additional, Lopes, Filipa M., additional, Pleschka, Michael, additional, Hilger, Alina C., additional, Schneider, Sophia, additional, Newman, William G., additional, Beaman, Glenda M., additional, Nordenskjöld, Agneta, additional, Ebert, Anne-Karoline, additional, Promm, Martin, additional, Rösch, Wolfgang H., additional, Stein, Raimund, additional, Hirsch, Karin, additional, Schäfer, Frank-Mattias, additional, Schmiedeke, Eberhard, additional, Boemers, Thomas M., additional, Lacher, Martin, additional, Kluth, Dietrich, additional, Gosemann, Jan-Hendrik, additional, Anderberg, Magnus, additional, Barker, Gillian, additional, Holmdahl, Gundela, additional, Läckgren, Göran, additional, Keene, David, additional, Cervellione, Raimondo M., additional, Giorgio, Elisa, additional, Di Grazia, Massimo, additional, Feitz, Wouter F. J., additional, Marcelis, Carlo L. M., additional, Van Rooij, Iris A. L. M., additional, Bökenkamp, Arend, additional, Beckers, Goedele M. A., additional, Keegan, Catherine E., additional, Sharma, Amit, additional, Dakal, Tikam Chand, additional, Wittler, Lars, additional, Grote, Phillip, additional, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Brusco, Alfredo, additional, Thiele, Holger, additional, Ludwig, Michael, additional, Schweizer, Ulrich, additional, Woolf, Adrian S., additional, Odermatt, Benjamin, additional, and Reutter, Heiko, additional

Published
2020
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45. Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Author

Zhang, Rong, primary, Gehlen, Jan, additional, Kawalia, Amit, additional, Melissari, Maria-Theodora, additional, Dakal, Tikam Chand, additional, Menon, Athira M., additional, Höfele, Julia, additional, Riedhammer, Korbinian, additional, Waffenschmidt, Lea, additional, Fabian, Julia, additional, Breuer, Katinka, additional, Kalanithy, Jeshurun, additional, Hilger, Alina Christine, additional, Sharma, Amit, additional, Hölscher, Alice, additional, Boemers, Thomas M., additional, Pauly, Markus, additional, Leutner, Andreas, additional, Fuchs, Jörg, additional, Seitz, Guido, additional, Ludwikowski, Barbara M., additional, Gomez, Barbara, additional, Hubertus, Jochen, additional, Heydweiller, Andreas, additional, Kurz, Ralf, additional, Leonhardt, Johannes, additional, Kosch, Ferdinand, additional, Holland-Cunz, Stefan, additional, Münsterer, Oliver, additional, Ure, Beno, additional, Schmiedeke, Eberhard, additional, Neser, Jörg, additional, Degenhardt, Petra, additional, Märzheuser, Stefanie, additional, Kleine, Katharina, additional, Schäfer, Mattias, additional, Spychalski, Nicole, additional, Deffaa, Oliver J., additional, Gosemann, Jan-Hendrik, additional, Lacher, Martin, additional, Heilmann-Heimbach, Stefanie, additional, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Ludwig, Michael, additional, Grote, Phillip, additional, Schumacher, Johannes, additional, Thiele, Holger, additional, and Reutter, Heiko, additional

Published
2020
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