Affiliations: Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany | Institute of Human Genetics, University of Bonn, Bonn, Germany | Department of Neonatology, Children’s Hospital, University of Bonn, Bonn, Germany
Note: [] Corresponding author: Michael Ludwig, Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany. Tel.: +49 228 6885 418; Fax: +49 228 6885 401; E-mail: [email protected].
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
