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Erlangen-N\u00fcrnberg","award":["O-149.0131"],"award-info":[{"award-number":["O-149.0131"]}]},{"name":"Interdisciplinary Center for Clinical Research (IZKF) at the University Hospital of the Friedrich-Alexander-Universit\u00e4t (FAU) Erlangen-N\u00fcrnberg","award":["Q614.2454"],"award-info":[{"award-number":["Q614.2454"]}]},{"name":"Deutsche Forschungsgemeinschaft","award":["RE 1723\/1-3"],"award-info":[{"award-number":["RE 1723\/1-3"]}]},{"name":"Deutsche Forschungsgemeinschaft","award":["LU-1944\/3-1"],"award-info":[{"award-number":["LU-1944\/3-1"]}]},{"name":"Deutsche Forschungsgemeinschaft","award":["O-149.0131"],"award-info":[{"award-number":["O-149.0131"]}]},{"name":"Deutsche Forschungsgemeinschaft","award":["Q614.2454"],"award-info":[{"award-number":["Q614.2454"]}]},{"name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","award":["RE 1723\/1-3"],"award-info":[{"award-number":["RE 1723\/1-3"]}]},{"name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","award":["LU-1944\/3-1"],"award-info":[{"award-number":["LU-1944\/3-1"]}]},{"name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","award":["O-149.0131"],"award-info":[{"award-number":["O-149.0131"]}]},{"name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","award":["Q614.2454"],"award-info":[{"award-number":["Q614.2454"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well. Methods: Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2. Results: The exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants (NR1H2, GKAP1), four candidate genes with autosomal-recessive biallelic variants (AKR1B10, CLSTN3, NDST4, PLEKHB1) and one candidate gene with suggestive uniparental disomy (SVEP1). However, re-sequencing did not identify any additional variant carriers in these candidate genes. Analysis of the affected sib-pair revealed no candidate gene. Re-sequencing of the genes within the 22q11.2 CBE phenocritical region identified two highly conserved frameshift variants that led to early termination in two independent CBE males, in LZTR1 (c.978_985del, p.Ser327fster6) and in SLC7A4 (c.1087delC, p.Arg363fster68). Conclusions: According to previous studies, our study further implicates LZTR1 in CBE formation. Exome analysis-derived candidate genes from CE individuals may not represent a frequent indicator for other BEEC phenotypes and warrant molecular analysis before their involvement in disease formation can be assumed.<\/jats:p>","DOI":"10.3390\/biom13071117","type":"journal-article","created":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T00:28:06Z","timestamp":1689294486000},"page":"1117","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation"],"prefix":"10.3390","volume":"13","author":[{"given":"Ricarda","family":"K\u00f6llges","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jil","family":"Stegmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"},{"name":"Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4872-0093","authenticated-orcid":false,"given":"Sophia","family":"Schneider","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lea","family":"Waffenschmidt","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Fazaal","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katinka","family":"Breuer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina C.","family":"Hilger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0015-6964","authenticated-orcid":false,"given":"Gabriel C.","family":"Dworschak","sequence":"additional","affiliation":[{"name":"Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany"},{"name":"Department of Neuropediatrics, University Hospital Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Mingardo","sequence":"additional","affiliation":[{"name":"Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"R\u00f6sch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7974-6694","authenticated-orcid":false,"given":"Aybike","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Neissner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Karolin","family":"Ebert","sequence":"additional","affiliation":[{"name":"Department of Urology and Pediatric Urology, University Hospital Ulm, 89081 Ulm, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raimund","family":"Stein","sequence":"additional","affiliation":[{"name":"Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, University Heidelberg, 69117 Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Younsi","sequence":"additional","affiliation":[{"name":"Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, University Heidelberg, 69117 Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Hirsch-Koch","sequence":"additional","affiliation":[{"name":"Division of Pediatric Urology, Department of Urology, University Hospital Erlangen, 91054 Erlangen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eberhard","family":"Schmiedeke","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Surgery and Pediatric Urology, Klinikum Bremen-Mitte, 28205 Bremen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Zwink","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-8784","authenticated-orcid":false,"given":"Ekkehart","family":"Jenetzky","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University of Cologne, 50923 Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8541-2519","authenticated-orcid":false,"given":"Kerstin U.","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3591-5265","authenticated-orcid":false,"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1055\/s-0041-1740336","article-title":"Genetic Counseling for Bladder Exstrophy-Epispadias Complex","volume":"31","author":"Reutter","year":"2021","journal-title":"Eur. 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