Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
- Jaureguiberry, G.
- De la Dure-Molla, M.
- Parry, D.
- Quentric, M.
- Himmerkus, N.
- Koike, T.
- Poulter, J.
- Klootwijk, E.
- Robinette, S.L.
- Howie, A.J.
- Patel, V.
- Figueres, M.L.
- Stanescu, H.C.
- Issler, N.
- Nicholson, J.K.
- Bockenhauer, D.
- Laing, C.
- Walsh, S.B.
- McCredie, D.A.
- Povey, S.
- Asselin, A.
- Picard, A.
- Coulomb, A.
- Medlar, A.J.
- 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, M.C.
- Yamaguti, P.M.
- Safatle, H.P.
- Acevedo, A.C.
- Martelli-Júnior, H.
- dos Santos Netos, P.E.
- Coletta, R.D.
- Gruessel, S.
- Sandmann, C.
- Ruehmann, D.
- Langman, C.B.
- Scheinman, S.J.
- Ozdemir-Ozenen, D.
- Hart, T.C.
- Hart, P.S.
- Neugebauer, U.
- Schlatter, E.
- Houillier, P.
- Gahl, W.A.
- Vikkula, M.
- Bloch-Zupan, A.
- Bleich, M.
- Kitagawa, H.
- Unwin, R.J.
- Mighell, A.
- Berdal, A.
- Kleta, R.
DOIAbstract
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 differen...
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