title: Renal agenesis in Kallmann syndrome: a network approach.
abstract: Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS-related disorders, renal agenesis cannot be directly associated with mutations in the KAL1 gene. We hypothesized that protein interaction networks may suggest a link between genes currently known to be associated with KS on the one hand and those associated with renal agenesis on the other hand. We created a STRING protein interaction network from KS-related genes and renal-agenesis-associated genes and analyzed it with Cytoscape 3.0.1 network software. The STRING protein interaction network provided a conceptual framework for current knowledge on the subject of renal morphogenesis in Kallmann syndrome. In addition, STRING and Cytoscape 3.0.1 software identified new potential KS renal-aplasia-associated genes (PAX2, BMP4, and SOX10). The use of protein-protein interaction networks and network analysis tools provided interesting insights and possible directions for future studies on the subject of renal aplasia in Kallmann syndrome.
authors.affiliation: Bar Ilan University, Ramat Gan, Israel.
authors.forename: Nili
authors.initials: N
authors.lastname: Tickotsky
authors.affiliation: Department of Pediatric Dentistry, Hebrew University, Hadassah School of Dental Medicine, Jerusalem, Israel.
authors.forename: Moti
authors.initials: M
authors.lastname: Moskovitz
mesh_terms: D016000:Cluster Analysis; D019295:Computational Biology; D000013:Congenital Abnormalities / Q000235:genetics*; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000151:congenital* / Q000235:genetics; D009010:Monte Carlo Method; D060066:Protein Interaction Maps; D012984:Software
keywords: Kallmann syndrome; anosmin‐1; protein–protein interactions; renal agenesis