Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

ConclusionThese data show that thePMM2 promotor variation,in trans of aPMM2 coding mutation, is associated with a wide spectrum of kidney phenotypes, and is not always associated with extra-renal symptoms. When present, extra-renal defects may include COACH-like syndrome. These data prompt screening ofPMM2 in unresolved cases of fetal hyperechogenic/cystic kidneys as well as in cystic kidney disease in children and adults.Graphical Abstract
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research