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

G. Jaureguiberry; M. De la Dure-Molla; D. Parry; M. Quentric; N. Himmerkus; T. Koike; J. Poulter; E. Klootwijk; S.L. Robinette; A.J. Howie; V. Patel; M.L. Figueres; H.C. Stanescu; N. Issler; J.K. Nicholson; D. Bockenhauer; C. Laing; S.B. Walsh; D.A. McCredie; S. Povey; A. Asselin; A. Picard; A. Coulomb; A.J. Medlar; I. Bailleul-Forestier; A. Verloes; C. Le Caignec; G. Roussey; J. Guiol; B. Isidor; C. Logan; R. Shore; C. Johnson; C. Inglehearn; S. Al-Bahlani; M. Schmittbuhl; F. Clauss; M. Huckert; V. Laugel; E. Ginglinger; S. Pajarola; G. Spartà; D. Bartholdi; A. Rauch; M.C. Addor; P.M. Yamaguti; H.P. Safatle; A.C. Acevedo; H. Martelli-Júnior; P.E. dos Santos Netos; R.D. Coletta; S. Gruessel; C. Sandmann; D. Ruehmann; C.B. Langman; S.J. Scheinman; D. Ozdemir-Ozenen; T.C. Hart; P.S. Hart; U. Neugebauer; E. Schlatter; P. Houillier; W.A. Gahl; M. Vikkula; A. Bloch-Zupan; M. Bleich; H. Kitagawa; R.J. Unwin; A. Mighell; A. Berdal; R. Kleta

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

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2012

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Anglais

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doi: 10.1159/000349989
issn: 1660-2110

Source

Serveur académique Lausannois

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Ce document est lié à :
info:eu-repo/semantics/altIdentifier/doi/10.1159/000349989

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/23434854

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/eissn/1660-2137

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DCEC597C12541

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Serveur Académique Lausannois

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Université de Lausanne et CHUV

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info:eu-repo/semantics/openAccess , Copying allowed only for non-profit organizations , https://serval.unil.ch/disclaimer

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Adolescent; Adult; Amelogenesis Imperfecta/complications; Amelogenesis Imperfecta/genetics; Child; Consanguinity; Dental Enamel Proteins/genetics; Exome/genetics; Family Health; Female; Genes, Recessive/genetics; Genetic Predisposition to Disease/genetics; Genome-Wide Association Study; Humans; Male; Middle Aged; Mutation; Nephrocalcinosis/complications; Nephrocalcinosis/genetics; Pedigree; Sequence Analysis, DNA/methods; Syndrome; Young Adult

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Nephrocalcinosis

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G. Jaureguiberry et al., « Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. », Serveur académique Lausannois, ID : 10.1159/000349989

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

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