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

Détails

Ressource 1Télécharger: BIB_DCEC597C1254.P001.pdf (161.16 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_DCEC597C1254
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Périodique
Nephron. Physiology
Auteur(s)
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.
ISSN
1660-2137 (Electronic)
ISSN-L
1660-2110
Statut éditorial
Publié
Date de publication
2012
Volume
122
Numéro
1-2
Pages
1-6
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Open Access
Oui
Création de la notice
16/01/2014 9:37
Dernière modification de la notice
20/08/2019 16:01
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