Renal Agenesis in Kallmann Syndrome: A Network Approach.

[kallmann syndrome]

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 KAL 1 gene mutations . Unlike other KS -related disorders , renal agenesis can not be directly associated with mutations in the KAL 1 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 (PAX 2 , BMP 4 , and SOX 10 ). 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 .