Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Author

JAUREGUIBERRY, Graciana¹ ; DE LA DURE-MOLLA, Muriel² ; PATEL, Vaksha¹ ; FIGUERES, Marie-Lucile⁸ ; STANESCU, Horia C¹ ; ISSLER, Naomi¹ ; NICHOLSON, Jeremy K⁷ ; BOCKENHAUER, Detlef¹ ; LAING, Christopher¹ ; WALSH, Stephen B¹ ; MCCREDIE, David A⁹ ; POVEY, Sue¹⁰ ; PARRY, David³ ; ASSELIN, Audrey¹¹ ; PICARD, Arnaud¹¹ ; COULOMB, Aurore¹² ; MEDLAR, Alan J¹ ; BAILLEUL-FORESTIER, Isabelle¹³ ; VERLOES, Alain¹⁴ ; LE CAIGNEC, Cedric¹⁵ ; ROUSSEY, Gwenaelle¹⁶ ; GUIOL, Julien¹⁷ ; ISIDOR, Bertrand¹⁵ ; QUENTRIC, Mickael⁴ ; LOGAN, Clare³ ; SHORE, Roger¹⁸ ; JOHNSON, Colin³ ; INGLEHEARN, Christopher³ ; AL-BAHLANI, Suhaila¹⁹ ; SCHMITTBUHL, Matthieu²⁰ ; CLAUSS, François²⁰ ; HUCKERT, Mathilde²⁰ ; LAUGEL, Virginie²¹ ; GINGLINGER, Emmanuelle²² ; HIMMERKUS, Nina⁵ ; PAJAROLA, Sandra²³ ; SPARTA, Giuseppina²⁴ ; BARTHOLDI, Deborah²³ ; RAUCH, Anita²³ ; ADDOR, Marie-Claude²⁵ ; YAMAGUTI, Paulo M; SAFATLE, Heloisa P; ACEVEDO, Ana Carolina; MARTELLI-JUNIOR, Hercílio; DOS SANTOS NETOS, Pedro E; KOIKE, Toshiyasu⁶ ; COLETTA, Ricardo D; GRUESSEL, Sandra⁵ ; SANDMANN, Carolin⁵ ; RUEHMANN, Denise⁵ ; LANGMAN, Craig B; SCHEINMAN, Steven J; OZDEMIR-OZENEN, Didem; HART, Thomas C; SUZANNE HART, P; NEUGEBAUER, Ute; POULTER, James³ ; KLOOTWIJK, Enriko¹ ; ROBINETTE, Steven L⁷ ; HOWIE, Alexander J¹
[1] Centre for Nephrology, University College London, London, United Kingdom
[2] Rothschild Dental Hospital Service, Paris, France
[3] Molecular Medicine, University of Leeds, Leeds, United Kingdom
[4] DeDuve Institute, Université catholique de Louvain, Brussels, Belgium
[5] Physiology, University of Kiel, Kiel, Germany
[6] Biochemistry, Kobe Pharmaceutical University, Kobe, Japan
[7] Biomolecular Medicine, Imperial College London, London, United Kingdom
[8] Cordeliers Research Center, Paris-Descartes University, Paris, France
[9] Royal Children's Hospital, Melbourne, Vic., Australia
[10] Department of Genetics, Evolution and Environment, UCL, London, United Kingdom
[11] INSERM, UMRS 872, University Paris-Diderot, France
[12] Pathology service, Armand Trousseau Hospital, Paris, France
[13] Toulouse Hospital, Sabatier University, Toulouse, France
[14] Department of Genetics, APHP ― Robert Debré University Hospital, Paris, France
[15] Service de Génétique, CHU de Nantes, Nantes, France
[16] Service de Pédiatrie, CHU de Nantes, Nantes, France
[17] Service de Stomatologie, CHU de Nantes, Nantes, France
[18] Leeds Dental Institute, University of Leeds, Leeds, United Kingdom
[19] Al-Nahda Hospital, Muscat, Oman
[20] University of Strasbourg, Strasbourg, France
[21] IGBMC, INSERM, U964, Illkirch, France
[22] Service de Génétique, Hôpital Emile Muller, Mulhouse, France
[23] Medical Genetics, University of Zurich, Switzerland
[24] Nephrology Unit, University Children's Hospital, Zurich, Switzerland
[25] Service de Génétique Médicale, Lausanne, Switzerland

Source

The Nephron journals. 2012, Vol 122, Num 1-2, pp 1-6, 6 p ; ref : 24 ref

ISSN

1660-8151

Scientific domain

Urology, nephrology

Publisher

Karger, Basel

Publication country

Switzerland

Document type

Article

Language

English

Author keyword

Amelogenesis imperfecta FAM20B FAM20C Nephrolithiasis Urolithiasis

Keyword (fr)

Amélogenèse imparfaite Autosome Calcul urinaire Caractère autosomique Caractère récessif Email dentaire Génétique Lithiase du rein Maladie héréditaire Mutation Néphrocalcinose Néphrologie Rein Syndrome Urologie Appareil urinaire Dysplasie dentaire Pathologie de l'appareil urinaire Pathologie dentaire Pathologie du rein Stomatologie

Keyword (en)

Amelogenesis imperfecta Autosome Urinary stone Autosomal character Recessive character Tooth enamel Genetics Renal lithiasis Genetic disease Mutation Nephrocalcinosis Nephrology Kidney Syndrome Urology Urinary system Dental dysplasia Urinary system disease Dental disease Kidney disease Stomatology

Keyword (es)

Amelogénesis imperfecta Autosoma Cálculo urinario Carácter autosómico Carácter recesivo Esmalte dental Genética Litiasis renal Enfermedad hereditaria Mutación Nefrocalcinosis Nefrología Riñón Síndrome Urología Aparato urinario Displasia dental Aparato urinario patología Diente patología Riñón patología Estomatología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10C Facial bones, jaws, teeth, parodontium: diseases, semeiology / 002B10C02 Non tumoral diseases

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14B Urinary lithiasis

Discipline

Nephrology. Urinary tract diseases Otorhinolaryngology. Stomatology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

27480621

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS