Journal
NEPHRON PHYSIOLOGY
Volume 122, Issue 1-2, Pages 1-6Publisher
KARGER
DOI: 10.1159/000349989
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Funding
- David and Elaine Potter Charitable Foundation
- St Peter's Trust for Kidney, Bladder and Prostate Research
- Kids Kidney Research
- Oxalosis & Hyperoxaluria Foundation
- European Union [305608]
- Intramural Research Program of the National Human Genome Research Institute
- MEXT
- Wellcome Trust
- Sir Jules Thorn Charitable Trust
- University of Strasbourg
- French Ministry of Health National Program for Clinical Research
- Hopitaux Universitaires de Strasbourg
- Institut Francais pour la Recherche Odontologique (IFRO)
- INSERM
- Paris-Descartes University
- French Ministry of Health and APHP Rothschild Hospital
- Paris-Diderot University
- F.R.S.-FNRS (Fonds de la Recherche Scientifique)
- Minas Gerais State Research Foundation (FAPEMIG)
- CAPES Brazil
- Deutsche Forschungsgemeinschaft [Ci 107/4-2]
- Grants-in-Aid for Scientific Research [10J10274] Funding Source: KAKEN
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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 biallelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. Copyright (C) 2013 S. Karger AG, Basel
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