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

Nephron Physiology Pub Date : 2012-01-01 Epub Date: 2013-02-23 DOI:10.1159/000349989

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 Povey, Audrey 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

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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 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.

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由常染色体隐性遗传 FAM20A 突变引起的肾钙化症（釉质肾综合征）。

背景/目的：钙的平衡需要细胞和间质系统的调节，这些系统相互作用以调节钙离子的活性和移动。肾脏中这些系统的失调会导致肾钙化和肾结石，这些重要的医学问题的发病机制尚不完全清楚：我们对来自 16 个家族的 25 名患者进行了调查，这些患者均患有原因不明的肾钙化症和特征性牙齿缺陷（成釉不全症、牙龈增生、牙齿萌出障碍）。为了确定致病基因，我们进行了全基因组关联分析、外显子组捕获、下一代测序和桑格测序：结果：所有患者的 FAM20A 基因都有双等位基因突变，并与该病发生分离；共发现 20 种不同的基因突变：结论：FAM20A 的这种常染色体隐性遗传疾病（又称釉肾综合征）会导致肾癌和成骨不全症。我们推测，所有具有 FAM20A 双重突变的个体最终都会出现肾钙化症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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