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

Graciana Jaureguiberry; Muriel De La Dure-Molla; David Parry; Mickael Quentric; Nina Himmerkus; Toshiyasu Koike; James Poulter; Enriko Klootwijk; Steven L. Robinette; Alexander J. Howie; Vaksha Patel; Marie Lucile Figueres; Horia C. Stanescu; Naomi Issler; Jeremy K. Nicholson; Detlef Bockenhauer; Christopher Laing; Stephen B. Walsh; David A. McCredie; Sue Povey; Audrey Asselin; Arnaud Picard; Aurore Coulomb; Alan J. Medlar; Isabelle Bailleul-Forestier; Alain Verloes; Cedric Le Caignec; Gwenaelle Roussey; Julien Guiol; Bertrand Isidor; Clare Logan; Roger Shore; Colin Johnson; Christopher Inglehearn; Suhaila Al-Bahlani; Matthieu Schmittbuhl; François Clauss; Mathilde Huckert; Virginie Laugel; Emmanuelle Ginglinger; Sandra Pajarola; Giuseppina Spartà; Deborah Bartholdi; Anita Rauch; Marie Claude Addor; Paulo M. Yamaguti; Heloisa P. Safatle; Ana Carolina Acevedo; Hercílio Martelli-Júnior; Pedro E. Dos Santos Netos

doi:10.1159/000349989

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

Graciana Jaureguiberry^*, Muriel De La Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Toshiyasu Koike, James Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie Lucile Figueres, Horia C. Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Bockenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue PoveyAudrey Asselin, Arnaud Picard, Aurore Coulomb, Alan J. Medlar, Isabelle Bailleul-Forestier, Alain Verloes, Cedric Le Caignec, Gwenaelle Roussey, Julien Guiol, Bertrand Isidor, Clare Logan, Roger Shore, Colin Johnson, Christopher Inglehearn, Suhaila Al-Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie Claude Addor, Paulo M. Yamaguti, Heloisa P. Safatle, Ana Carolina Acevedo, Hercílio Martelli-Júnior, Pedro E. Dos Santos Netos

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

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 au-tosomal 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.

Original language	English
Pages (from-to)	1-6
Number of pages	6
Journal	Nephron Physiology
Volume	122
Issue number	1-2
DOIs	https://doi.org/10.1159/000349989
Publication status	Published - 1 Apr 2013

Keywords / Materials (for Non-textual outputs)

Amelogenesis imperfecta
FAM20B
FAM20C
Nephrolithiasis
Urolithiasis

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10.1159/000349989

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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., ... Dos Santos Netos, P. E. (2013). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1-2), 1-6. https://doi.org/10.1159/000349989

@article{10e1b42ec9714085936fcf68001777bc,

title = "Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations",

abstract = "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 au-tosomal 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.",

keywords = "Amelogenesis imperfecta, FAM20B, FAM20C, Nephrolithiasis, Urolithiasis",

author = "Graciana Jaureguiberry and {De La Dure-Molla}, Muriel and David Parry and Mickael Quentric and Nina Himmerkus and Toshiyasu Koike and James Poulter and Enriko Klootwijk and Robinette, {Steven L.} and Howie, {Alexander J.} and Vaksha Patel and Figueres, {Marie Lucile} and Stanescu, {Horia C.} and Naomi Issler and Nicholson, {Jeremy K.} and Detlef Bockenhauer and Christopher Laing and Walsh, {Stephen B.} and McCredie, {David A.} and Sue Povey and Audrey Asselin and Arnaud Picard and Aurore Coulomb and Medlar, {Alan J.} and Isabelle Bailleul-Forestier and Alain Verloes and {Le Caignec}, Cedric and Gwenaelle Roussey and Julien Guiol and Bertrand Isidor and Clare Logan and Roger Shore and Colin Johnson and Christopher Inglehearn and Suhaila Al-Bahlani and Matthieu Schmittbuhl and Fran{\c c}ois Clauss and Mathilde Huckert and Virginie Laugel and Emmanuelle Ginglinger and Sandra Pajarola and Giuseppina Spart{\`a} and Deborah Bartholdi and Anita Rauch and Addor, {Marie Claude} and Yamaguti, {Paulo M.} and Safatle, {Heloisa P.} and Acevedo, {Ana Carolina} and Herc{\'i}lio Martelli-J{\'u}nior and {Dos Santos Netos}, {Pedro E.}",

year = "2013",

month = apr,

day = "1",

doi = "10.1159/000349989",

language = "English",

volume = "122",

pages = "1--6",

journal = "Nephron Physiology",

issn = "1660-2137",

publisher = "Karger Publishers",

number = "1-2",

}

Jaureguiberry, G, De La Dure-Molla, M, Parry, D, Quentric, M, Himmerkus, N, Koike, T, Poulter, J, Klootwijk, E, Robinette, SL, Howie, AJ, Patel, V, Figueres, ML, Stanescu, HC, Issler, N, Nicholson, JK, Bockenhauer, D, Laing, C, Walsh, SB, McCredie, DA, Povey, S, Asselin, A, Picard, A, Coulomb, A, Medlar, AJ, 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, MC, Yamaguti, PM, Safatle, HP, Acevedo, AC, Martelli-Júnior, H & Dos Santos Netos, PE 2013, 'Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations', Nephron Physiology, vol. 122, no. 1-2, pp. 1-6. https://doi.org/10.1159/000349989

TY - JOUR

T1 - Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

AU - Jaureguiberry, Graciana

AU - De La Dure-Molla, Muriel

AU - Parry, David

AU - Quentric, Mickael

AU - Himmerkus, Nina

AU - Koike, Toshiyasu

AU - Poulter, James

AU - Klootwijk, Enriko

AU - Robinette, Steven L.

AU - Howie, Alexander J.

AU - Patel, Vaksha

AU - Figueres, Marie Lucile

AU - Stanescu, Horia C.

AU - Issler, Naomi

AU - Nicholson, Jeremy K.

AU - Bockenhauer, Detlef

AU - Laing, Christopher

AU - Walsh, Stephen B.

AU - McCredie, David A.

AU - Povey, Sue

AU - Asselin, Audrey

AU - Picard, Arnaud

AU - Coulomb, Aurore

AU - Medlar, Alan J.

AU - Bailleul-Forestier, Isabelle

AU - Verloes, Alain

AU - Le Caignec, Cedric

AU - Roussey, Gwenaelle

AU - Guiol, Julien

AU - Isidor, Bertrand

AU - Logan, Clare

AU - Shore, Roger

AU - Johnson, Colin

AU - Inglehearn, Christopher

AU - Al-Bahlani, Suhaila

AU - Schmittbuhl, Matthieu

AU - Clauss, François

AU - Huckert, Mathilde

AU - Laugel, Virginie

AU - Ginglinger, Emmanuelle

AU - Pajarola, Sandra

AU - Spartà, Giuseppina

AU - Bartholdi, Deborah

AU - Rauch, Anita

AU - Addor, Marie Claude

AU - Yamaguti, Paulo M.

AU - Safatle, Heloisa P.

AU - Acevedo, Ana Carolina

AU - Martelli-Júnior, Hercílio

AU - Dos Santos Netos, Pedro E.

PY - 2013/4/1

Y1 - 2013/4/1

N2 - 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 au-tosomal 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.

AB - 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 au-tosomal 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.

KW - Amelogenesis imperfecta

KW - FAM20B

KW - FAM20C

KW - Nephrolithiasis

KW - Urolithiasis

UR - http://www.scopus.com/inward/record.url?scp=84876377978&partnerID=8YFLogxK

U2 - 10.1159/000349989

DO - 10.1159/000349989

M3 - Article

C2 - 23434854

AN - SCOPUS:84876377978

SN - 1660-2137

VL - 122

SP - 1

EP - 6

JO - Nephron Physiology

JF - Nephron Physiology

IS - 1-2

ER -

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

Abstract

Keywords / Materials (for Non-textual outputs)

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