Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

ABSTRACT:

Background/aims

Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.

Methods

We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.

Results

All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified.

SUBMITTER: Jaureguiberry G 

PROVIDER: S-EPMC3782194 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature