Researchers Link Facial Features to Autosomal Dominant Polycystic Kidney Disease.

Some people with autosomal dominant polycystic kidney disease (ADPKD) may have characteristic facial features that reflect a genetic mutation they carry in the PKD2 gene. A Human Molecular Genetics study identified specific facial and dental abnormalities in PKD2mutant mice that developed after birth and correlated with the function of PKD2 as a mechanoreceptor, influencing face structure by affecting jaw strength and other features. 3D facial shape analyses of 19 patients with ADPKD revealed specific facial characteristics, some of which correlated with those of the mutant mice.