title: Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
abstract: OBJECTIVE
  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.
authors: Centre for Nephrology, University College London, London, UK.
authors: Graciana
authors: G
authors: Jaureguiberry
authors: Muriel
authors: M
authors: De la Dure-Molla
authors: David
authors: D
authors: Parry
authors: Mickael
authors: M
authors: Quentric
authors: Nina
authors: N
authors: Himmerkus
authors: Toshiyasu
authors: T
authors: Koike
authors: James
authors: J
authors: Poulter
authors: Enriko
authors: E
authors: Klootwijk
authors: Steven L
authors: SL
authors: Robinette
authors: Alexander J
authors: AJ
authors: Howie
authors: Vaksha
authors: V
authors: Patel
authors: Marie-Lucile
authors: ML
authors: Figueres
authors: Horia C
authors: HC
authors: Stanescu
authors: Naomi
authors: N
authors: Issler
authors: Jeremy K
authors: JK
authors: Nicholson
authors: Detlef
authors: D
authors: Bockenhauer
authors: Christopher
authors: C
authors: Laing
authors: Stephen B
authors: SB
authors: Walsh
authors: David A
authors: DA
authors: McCredie
authors: Sue
authors: S
authors: Povey
authors: Audrey
authors: A
authors: Asselin
authors: Arnaud
authors: A
authors: Picard
authors: Aurore
authors: A
authors: Coulomb
authors: Alan J
authors: AJ
authors: Medlar
authors: Isabelle
authors: I
authors: Bailleul-Forestier
authors: Alain
authors: A
authors: Verloes
authors: Cedric
authors: C
authors: Le Caignec
authors: Gwenaelle
authors: G
authors: Roussey
authors: Julien
authors: J
authors: Guiol
authors: Bertrand
authors: B
authors: Isidor
authors: Clare
authors: C
authors: Logan
authors: Roger
authors: R
authors: Shore
authors: Colin
authors: C
authors: Johnson
authors: Christopher
authors: C
authors: Inglehearn
authors: Suhaila
authors: S
authors: Al-Bahlani
authors: Matthieu
authors: M
authors: Schmittbuhl
authors: François
authors: F
authors: Clauss
authors: Mathilde
authors: M
authors: Huckert
authors: Virginie
authors: V
authors: Laugel
authors: Emmanuelle
authors: E
authors: Ginglinger
authors: Sandra
authors: S
authors: Pajarola
authors: Giuseppina
authors: G
authors: Spartà
authors: Deborah
authors: D
authors: Bartholdi
authors: Anita
authors: A
authors: Rauch
authors: Marie-Claude
authors: MC
authors: Addor
authors: Paulo M
authors: PM
authors: Yamaguti
authors: Heloisa P
authors: HP
authors: Safatle
authors: Ana Carolina
authors: AC
authors: Acevedo
authors: Hercílio
authors: H
authors: Martelli-Júnior
authors: Pedro E
authors: PE
authors: dos Santos Netos
authors: Ricardo D
authors: RD
authors: Coletta
authors: Sandra
authors: S
authors: Gruessel
authors: Carolin
authors: C
authors: Sandmann
authors: Denise
authors: D
authors: Ruehmann
authors: Craig B
authors: CB
authors: Langman
authors: Steven J
authors: SJ
authors: Scheinman
authors: Didem
authors: D
authors: Ozdemir-Ozenen
authors: Thomas C
authors: TC
authors: Hart
authors: P Suzanne
authors: PS
authors: Hart
authors: Ute
authors: U
authors: Neugebauer
authors: Eberhard
authors: E
authors: Schlatter
authors: Pascal
authors: P
authors: Houillier
authors: William A
authors: WA
authors: Gahl
authors: Miikka
authors: M
authors: Vikkula
authors: Agnès
authors: A
authors: Bloch-Zupan
authors: Markus
authors: M
authors: Bleich
authors: Hiroshi
authors: H
authors: Kitagawa
authors: Robert J
authors: RJ
authors: Unwin
authors: Alan
authors: A
authors: Mighell
authors: Ariane
authors: A
authors: Berdal
authors: Robert
authors: R
authors: Kleta
mesh_terms: D000293:Adolescent; D000328:Adult; D000567:Amelogenesis Imperfecta / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002648:Child; D003241:Consanguinity; D003746:Dental Enamel Proteins / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009397:Nephrocalcinosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods; D013577:Syndrome; D055815:Young Adult
chemical_list: D003746:Dental Enamel Proteins; C571509:FAM20A protein, human