Recurrent 17q12 microduplications contribute to renal disease but not diabetes

Conclusion We demonstrate 17q12 microdeletions but not microduplications are associated with diabetes in a population-based cohort, likely caused by HNF1B haploinsufficiency. We show that both 17q12 microdeletions and microduplications are associated with renal disease, and multiple genes within the region likely contribute to renal and neurocognitive phenotypes.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access Copy-number variation Source Type: research