Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
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DOI：
10.1159/000349989
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Kleta R
中科院分区：
文献类型：
--
作者：
Jaureguiberry G;De la Dure-Molla M;Parry D;Quentric M;Himmerkus N;Koike T;Poulter J;Klootwijk E;Robinette SL;Howie AJ;Patel V;Figueres ML;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;Inglehearn C;Al-Bahlani S;Schmittbuhl M;Clauss F;Huckert M;Laugel V;Ginglinger E;Pajarola S;Spartà G;Bartholdi D;Rauch A;Addor MC;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
钙稳态需要受调节的细胞和间质系统相互作用来调节该离子的活性和运动。肾脏中这些系统的破坏会导致肾钙质沉着症和肾结石，这些重要的医学问题的发病机制尚不完全清楚。我们调查了来自 16 个家庭的 25 名患有不明原因肾钙质沉着症和特征性牙齿缺陷（釉质生成不全、牙龈增生、牙齿萌出受损）的患者。为了确定致病基因，我们进行了全基因组连锁分析、外显子组捕获、下一代测序和桑格测序。所有患者均具有与疾病分离的双等位基因 FAM20A 突变；鉴定出 20 种不同的突变。 FAM20A 的这种常染色体隐性遗传疾病，也称为牙釉质肾综合征，会导致肾钙质沉着症和釉质生成不全。我们推测所有具有双等位基因 FAM20A 突变的个体最终都会出现肾钙质沉着症。
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. 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. All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. 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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DOI：
10.1111/j.1749-6632.2009.04041.x
发表时间：
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期刊：
MOLECULAR STRUCTURE AND FUNCTION OF THE TIGHT JUNCTION: FROM BASIC MECHANISMS TO CLINICAL MANIFESTATIONS
影响因子：
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影响因子：
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影响因子：
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