Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
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Jaureguiberry Graciana, De la Dure-Molla Muriel, Parry David, Quentric Mickael, Himmerkus Nina, Koike Toshiyasu, Poulter James, Klootwijk Enriko, Robinette Steven L, Howie Alexander J, Patel Vaksha, Figueres Marie-Lucile, Stanescu Horia C, Issler Naomi, Nicholson Jeremy K, Bockenhauer Detlef, Laing Christopher, Walsh Stephen B, McCredie David A, Povey Sue, Asselin Audrey, Picard Arnaud, Coulomb Aurore, Medlar Alan J, Bailleul-Forestier Isabelle, Verloes Alain, Le Caignec Cedric, Roussey Gwenaelle, Guiol Julien, Isidor Bertrand, Logan Clare, Shore Roger, Johnson Colin, Inglehearn Christopher, Al-Bahlani Suhaila, Schmittbuhl Matthieu, Clauss François, Huckert Mathilde, Laugel Virginie, Ginglinger Emmanuelle, Pajarola Sandra, Spartà Giuseppina, Bartholdi Deborah, Rauch Anita, Addor Marie-Claude, Yamaguti Paulo M, Safatle Heloisa P, Acevedo Ana Carolina, Martelli-Júnior Hercílio, dos Santos Netos Pedro E, Coletta Ricardo D, Gruessel Sandra, Sandmann Carolin, Ruehmann Denise, Langman Craig B, Scheinman Steven J, Ozdemir-Ozenen Didem, Hart Thomas C, Hart P Suzanne, Neugebauer Ute, Schlatter Eberhard, Houillier Pascal, Gahl William A, Vikkula Miikka, Bloch-Zupan Agnès, Bleich Markus, Kitagawa Hiroshi, Unwin Robert J, Mighell Alan, Berdal Ariane, Kleta Robert
Аннотация
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.