Cover Image

Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation

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 analysi...

Full description

Saved in:
Bibliographic Details
Main Authors: Köllges, Ricarda (Author) , Stegmann, Jil (Author) , Schneider, Sophia (Author) , Waffenschmidt, Lea (Author) , Fazaal, Julia (Author) , Breuer, Katinka (Author) , Hilger, Alina C. (Author) , Dworschak, Gabriel C. (Author) , Mingardo, Enrico (Author) , Rösch, Wolfgang (Author) , Hofmann, Aybike (Author) , Neissner, Claudia (Author) , Ebert, Anne-Karolin (Author) , Stein, Raimund (Author) , Younsi, Nina (Author) , Hirsch-Koch, Karin (Author) , Schmiedeke, Eberhard (Author) , Zwink, Nadine (Author) , Jenetzky, Ekkehart (Author) , Thiele, Holger (Author) , Ludwig, Kerstin U. (Author) , Reutter, Heiko (Author)
Format: Article (Journal)
Language:English
Published: 13 July 2023
In: Biomolecules
Year: 2023, Volume: 13, Issue: 7, Pages: 1-12
ISSN:2218-273X
DOI:10.3390/biom13071117
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.3390/biom13071117
Verlag, kostenfrei, Volltext: https://www.mdpi.com/2218-273X/13/7/1117
Get full text
Author Notes:Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig and Heiko Reutter

MARC

LEADER 00000caa a2200000 c 4500
001 1901797708
003 DE-627
005 20241205170312.0
007 cr uuu---uuuuu
008 240904s2023 xx |||||o 00| ||eng c
024 7 |a 10.3390/biom13071117  |2 doi 
035 |a (DE-627)1901797708 
035 |a (DE-599)KXP1901797708 
035 |a (OCoLC)1475310617 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Köllges, Ricarda  |e VerfasserIn  |0 (DE-588)1340944189  |0 (DE-627)1901798283  |4 aut 
245 1 0 |a Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation  |c Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig and Heiko Reutter 
264 1 |c 13 July 2023 
300 |b Illustrationen 
300 |a 12 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 04.09.2024 
520 |a 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. 
650 4 |a cloacal exstrophy 
650 4 |a exome analysis 
650 4 |a exstrophy 
650 4 |a molecular inversion probe 
700 1 |a Stegmann, Jil  |e VerfasserIn  |4 aut 
700 1 |a Schneider, Sophia  |e VerfasserIn  |4 aut 
700 1 |a Waffenschmidt, Lea  |e VerfasserIn  |4 aut 
700 1 |a Fazaal, Julia  |e VerfasserIn  |4 aut 
700 1 |a Breuer, Katinka  |e VerfasserIn  |4 aut 
700 1 |a Hilger, Alina C.  |e VerfasserIn  |4 aut 
700 1 |a Dworschak, Gabriel C.  |e VerfasserIn  |4 aut 
700 1 |a Mingardo, Enrico  |e VerfasserIn  |4 aut 
700 1 |a Rösch, Wolfgang  |e VerfasserIn  |4 aut 
700 1 |a Hofmann, Aybike  |e VerfasserIn  |4 aut 
700 1 |a Neissner, Claudia  |e VerfasserIn  |4 aut 
700 1 |a Ebert, Anne-Karolin  |e VerfasserIn  |4 aut 
700 1 |a Stein, Raimund  |d 1963-  |e VerfasserIn  |0 (DE-588)1016769091  |0 (DE-627)671837656  |0 (DE-576)352637323  |4 aut 
700 1 |a Younsi, Nina  |d 1985-  |e VerfasserIn  |0 (DE-588)1062805585  |0 (DE-627)806967110  |0 (DE-576)420231021  |4 aut 
700 1 |a Hirsch-Koch, Karin  |e VerfasserIn  |4 aut 
700 1 |a Schmiedeke, Eberhard  |e VerfasserIn  |4 aut 
700 1 |a Zwink, Nadine  |e VerfasserIn  |4 aut 
700 1 |a Jenetzky, Ekkehart  |e VerfasserIn  |4 aut 
700 1 |a Thiele, Holger  |e VerfasserIn  |4 aut 
700 1 |a Ludwig, Kerstin U.  |e VerfasserIn  |4 aut 
700 1 |a Reutter, Heiko  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t Biomolecules  |d Basel : MDPI, 2011  |g 13(2023), 7, Artikel-ID 1117, Seite 1-12  |h Online-Ressource  |w (DE-627)735688915  |w (DE-600)2701262-1  |w (DE-576)378494244  |x 2218-273X  |7 nnas  |a Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation 
773 1 8 |g volume:13  |g year:2023  |g number:7  |g elocationid:1117  |g pages:1-12  |g extent:12  |a Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation 
856 4 0 |u https://doi.org/10.3390/biom13071117  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://www.mdpi.com/2218-273X/13/7/1117  |x Verlag  |z kostenfrei  |3 Volltext 
951 |a AR 
992 |a 20240904 
993 |a Article 
994 |a 2023 
998 |g 1062805585  |a Younsi, Nina  |m 1062805585:Younsi, Nina  |p 15 
998 |g 1016769091  |a Stein, Raimund  |m 1016769091:Stein, Raimund  |d 60000  |e 60000PS1016769091  |k 0/60000/  |p 14 
999 |a KXP-PPN1901797708  |e 457592959X 
BIB |a Y 
SER |a journal 
JSO |a {"origin":[{"dateIssuedKey":"2023","dateIssuedDisp":"13 July 2023"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"roleDisplay":"VerfasserIn","given":"Ricarda","role":"aut","family":"Köllges","display":"Köllges, Ricarda"},{"roleDisplay":"VerfasserIn","given":"Jil","role":"aut","family":"Stegmann","display":"Stegmann, Jil"},{"display":"Schneider, Sophia","family":"Schneider","role":"aut","given":"Sophia","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","given":"Lea","role":"aut","display":"Waffenschmidt, Lea","family":"Waffenschmidt"},{"given":"Julia","roleDisplay":"VerfasserIn","role":"aut","display":"Fazaal, Julia","family":"Fazaal"},{"role":"aut","given":"Katinka","roleDisplay":"VerfasserIn","family":"Breuer","display":"Breuer, Katinka"},{"display":"Hilger, Alina C.","family":"Hilger","given":"Alina C.","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Dworschak","display":"Dworschak, Gabriel C.","given":"Gabriel C.","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Mingardo","display":"Mingardo, Enrico","role":"aut","given":"Enrico","roleDisplay":"VerfasserIn"},{"family":"Rösch","display":"Rösch, Wolfgang","role":"aut","given":"Wolfgang","roleDisplay":"VerfasserIn"},{"display":"Hofmann, Aybike","family":"Hofmann","given":"Aybike","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Claudia","role":"aut","display":"Neissner, Claudia","family":"Neissner"},{"given":"Anne-Karolin","roleDisplay":"VerfasserIn","role":"aut","family":"Ebert","display":"Ebert, Anne-Karolin"},{"display":"Stein, Raimund","family":"Stein","roleDisplay":"VerfasserIn","given":"Raimund","role":"aut"},{"display":"Younsi, Nina","family":"Younsi","role":"aut","given":"Nina","roleDisplay":"VerfasserIn"},{"display":"Hirsch-Koch, Karin","family":"Hirsch-Koch","role":"aut","given":"Karin","roleDisplay":"VerfasserIn"},{"given":"Eberhard","roleDisplay":"VerfasserIn","role":"aut","family":"Schmiedeke","display":"Schmiedeke, Eberhard"},{"role":"aut","given":"Nadine","roleDisplay":"VerfasserIn","display":"Zwink, Nadine","family":"Zwink"},{"family":"Jenetzky","display":"Jenetzky, Ekkehart","role":"aut","given":"Ekkehart","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Holger","family":"Thiele","display":"Thiele, Holger"},{"family":"Ludwig","display":"Ludwig, Kerstin U.","role":"aut","given":"Kerstin U.","roleDisplay":"VerfasserIn"},{"display":"Reutter, Heiko","family":"Reutter","given":"Heiko","roleDisplay":"VerfasserIn","role":"aut"}],"physDesc":[{"extent":"12 S.","noteIll":"Illustrationen"}],"title":[{"title":"Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation","title_sort":"Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation"}],"note":["Gesehen am 04.09.2024"],"id":{"doi":["10.3390/biom13071117"],"eki":["1901797708"]},"relHost":[{"origin":[{"dateIssuedKey":"2011","publisherPlace":"Basel","publisher":"MDPI","dateIssuedDisp":"2011-"}],"pubHistory":["1.2011 -"],"title":[{"subtitle":"open access journal","title":"Biomolecules","title_sort":"Biomolecules"}],"part":{"issue":"7","text":"13(2023), 7, Artikel-ID 1117, Seite 1-12","pages":"1-12","volume":"13","year":"2023","extent":"12"},"language":["eng"],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formationBiomolecules","physDesc":[{"extent":"Online-Ressource"}],"id":{"issn":["2218-273X"],"eki":["735688915"],"zdb":["2701262-1"]},"note":["Gesehen am 20.05.2020"],"recId":"735688915"}],"recId":"1901797708","language":["eng"],"name":{"displayForm":["Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig and Heiko Reutter"]}} 
SRT |a KOELLGESRIEXOMESURVE1320 

Similar Items