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. 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.

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Item Type:	Article
Authors/Creators:	Jaureguiberry, G De la Dure-Molla, M Parry, D Quentric, M Himmerkus, N Koike, T Poulter, J https://orcid.org/0000-0003-2048-5693 Klootwijk, E Robinette, SL Howie, AJ Patel, V Figueres, M-L Stanescu, HC Issler, N Nicholson, JK Bockenhauer, D Laing, C Walsh, SB McCredie, DA Povey, S Asselin, A Picard, A Coulomb, A Medlar, AJ Bailleul-Forestier, I Verloes, A Le Caignec, C Roussey, G Guiol, J Isidor, B Logan, C Shore, R Johnson, C https://orcid.org/0000-0002-2979-8234 Inglehearn, C Al-Bahlani, S Schmittbuhl, M Clauss, F Huckert, M Laugel, V Ginglinger, E Pajarola, S Spartà, G Bartholdi, D Rauch, A Addor, M-C Yamaguti, PM Safatle, HP Acevedo, AC Martelli-Júnior, H dos Santos Netos, PE Coletta, RD Gruessel, S Sandmann, C Ruehmann, D Langman, CB Scheinman, SJ Ozdemir-Ozenen, D Hart, TC Hart, PS Neugebauer, U Schlatter, E Houillier, P Gahl, WA Vikkula, M Bloch-Zupan, A Bleich, M Kitagawa, H Unwin, RJ Mighell, A Berdal, A Kleta, R
Copyright, Publisher and Additional Information:	© 2013 S. Karger AG, Basel. This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (www.karger.com/OA-license-WT), applicable to the online version of the article only. Distribution for noncommercial purposes only.
Dates:	Published: April 2013
Institution:	The University of Leeds
Academic Units:	The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Dentistry (Leeds) > Oral Surgery (Leeds) The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds) The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Depositing User:	Symplectic Publications
Date Deposited:	08 Sep 2017 11:39
Last Modified:	08 Sep 2017 11:40
Status:	Published
Publisher:	Karger
Identification Number:	10.1159/000349989
Related URLs:	Author
Open Archives Initiative ID (OAI ID):	oai:eprints.whiterose.ac.uk:87175

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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

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