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J Pediatr Genet 2012; 01(04): 209-216
DOI: 10.3233/PGE-12033
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations

Michael Ludwig
a   Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
,
Heiko Reutter
b   Institute of Human Genetics, University of Bonn, Bonn, Germany
c   Department of Neonatology, Children’s Hospital, University of Bonn, Bonn, Germany
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Publication History

30 July 2012

10 September 2012

Publication Date:
27 July 2015 (online)

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Abstract

Development of the genitourinary tract requires spatiotemporal expression of a myriad of genes involved in various cascades and signaling events. To date, researchers have put great efforts into defining the etiology of these malformations. However, many aspects remain unsolved. This paper reviews the most recent progress in identifying causally related genes and novel loci assumed to harbor genes involved in the formation of urogenital malformations. These investigations have been considerately accelerated by the implementation of molecular karyotyping using array techniques and next generation sequencing strategies.

Keywords

Array analysis - disease loci - genitourinary malformations - next generation sequencing