Universität zu Köln

Reutter, Heiko, Keppler-Noreuil, Kim, Keegan, Catherine E., Thiele, Holger, Yamada, Gen and Ludwig, Michael (2016). Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. Curr. Genomics, 17 (1). S. 4 - 14. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1875-5488

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Abstract

The Bladder-Exstrophy-Epispadias Complex (BEEC) represents the severe end of the urorectal malformation spectrum, and has a profound impact on continence, and on sexual and renal function. While previous reports of familial occurrence, increased recurrence among first-degree relatives, high concordance rates among monozygotic twins, and chromosomal aberrations were suggestive of causative genetic factors, the recent identification of copy number variations (CNVs), susceptibility regions and genes through the systematic application of array based analysis, candidate gene and genome-wide association studies (GWAS) provide strong evidence. These findings in human BEEC cohorts are underscored by the recent description of BEEC(-like) murine knockout models. Here, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal urorectal development leading to the BEEC, demonstrating the importance of ISL1-pathway in human and mouse and propose SLC20A1 and CELSR3 as the first BEEC candidate genes, identified through systematic whole-exome sequencing (WES) in BEEC patients.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Reutter, Heiko UNSPECIFIED UNSPECIFIED UNSPECIFIED Keppler-Noreuil, Kim UNSPECIFIED UNSPECIFIED UNSPECIFIED Keegan, Catherine E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Yamada, Gen UNSPECIFIED UNSPECIFIED UNSPECIFIED Ludwig, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-288268
DOI:	10.2174/1389202916666151014221806
Journal or Publication Title:	Curr. Genomics
Volume:	17
Number:	1
Page Range:	S. 4 - 14
Date:	2016
Publisher:	BENTHAM SCIENCE PUBL LTD
Place of Publication:	SHARJAH
ISSN:	1875-5488
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ANUS-SPINAL DEFECTS; SEPTUM MALFORMATION SEQUENCE; EXTERNAL GENITALIA FORMATION; CLOACAL EXSTROPHY; OEIS COMPLEX; MOLECULAR ANALYSIS; CONJOINED TWINS; BIRTH-DEFECTS; ASSOCIATION; FAMILIES Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28826