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

Graciana Jaureguiberry*, Muriel De La Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Toshiyasu Koike, James Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie Lucile Figueres, Horia C. Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Bockenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue PoveyAudrey Asselin, Arnaud Picard, Aurore Coulomb, Alan J. Medlar, Isabelle Bailleul-Forestier, Alain Verloes, Cedric Le Caignec, Gwenaelle Roussey, Julien Guiol, Bertrand Isidor, Clare Logan, Roger Shore, Colin Johnson, Christopher Inglehearn, Suhaila Al-Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie Claude Addor, Paulo M. Yamaguti, Heloisa P. Safatle, Ana Carolina Acevedo, Hercílio Martelli-Júnior, Pedro E. Dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Ozdemir-Ozenen, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch-Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan Mighell, Ariane Berdal, Robert Kleta

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


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. Conclusions: This au-tosomal 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.

Original languageEnglish (US)
Pages (from-to)1-6
Number of pages6
JournalNephron - Physiology
Issue number1-2
StatePublished - Apr 2013


  • Amelogenesis imperfecta
  • FAM20B
  • FAM20C
  • Nephrolithiasis
  • Urolithiasis

ASJC Scopus subject areas

  • Nephrology
  • Physiology (medical)
  • Physiology


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