PMCC PMCC

Search tips
Search criteria

Advanced
Results 1-3 (3)
 

Clipboard (0)
None

Select a Filter Below

Journals
Year of Publication
Document Types
1.  Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations 
Jaureguiberry, Graciana | De la Dure-Molla, Muriel | Parry, David | Quentric, Mickael | Himmerkus, Nina | Koike, Toshiyasu | Poulter, James | Klootwijk, Enriko | Robinette, Steven L. | Howie, Alexander J. | Patel, Vaksha | Figueres, Marie-Lucile | Stanescu, Horia C. | Issler, Naomi | Nicholson, Jeremy K. | Bockenhauer, Detlef | Laing, Christopher | Walsh, Stephen B. | McCredie, David A. | Povey, Sue | Asselin, Audrey | Picard, Arnaud | Coulomb, Aurore | Medlar, Alan J. | Bailleul-Forestier, Isabelle | Verloes, Alain | Le Caignec, Cedric | Roussey, Gwenaelle | Guiol, Julien | Isidor, Bertrand | Logan, Clare | Shore, Roger | Johnson, Colin | Inglehearn, Christopher | Al-Bahlani, Suhaila | Schmittbuhl, Matthieu | Clauss, François | Huckert, Mathilde | Laugel, Virginie | Ginglinger, Emmanuelle | Pajarola, Sandra | Spartà, Giuseppina | Bartholdi, Deborah | Rauch, Anita | Addor, Marie-Claude | Yamaguti, Paulo M. | Safatle, Heloisa P. | Acevedo, Ana Carolina | Martelli-Júnior, Hercílio | dos Santos Netos, Pedro E. | Coletta, Ricardo D. | Gruessel, Sandra | Sandmann, Carolin | Ruehmann, Denise | Langman, Craig B. | Scheinman, Steven J. | Ozdemir-Ozenen, Didem | Hart, Thomas C. | Hart, P. Suzanne | Neugebauer, Ute | Schlatter, Eberhard | Houillier, Pascal | Gahl, William A. | Vikkula, Miikka | Bloch-Zupan, Agnès | Bleich, Markus | Kitagawa, Hiroshi | Unwin, Robert J. | Mighell, Alan | Berdal, Ariane | Kleta, Robert
Nephron. Physiology  2013;122(0):1-6.
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 biallelic 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.
doi:10.1159/000349989
PMCID: PMC3782194  PMID: 23434854
Nephrolithiasis; Urolithiasis; Amelogenesis imperfecta; FAM20B; FAM20C
2.  Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations 
Jaureguiberry, Graciana | De la Dure-Molla, Muriel | Parry, David | Quentric, Mickael | Himmerkus, Nina | Koike, Toshiyasu | Poulter, James | Klootwijk, Enriko | Robinette, Steven L. | Howie, Alexander J. | Patel, Vaksha | Figueres, Marie-Lucile | Stanescu, Horia C. | Issler, Naomi | Nicholson, Jeremy K. | Bockenhauer, Detlef | Laing, Christopher | Walsh, Stephen B. | McCredie, David A. | Povey, Sue | Asselin, Audrey | Picard, Arnaud | Coulomb, Aurore | Medlar, Alan J. | Bailleul-Forestier, Isabelle | Verloes, Alain | Le Caignec, Cedric | Roussey, Gwenaelle | Guiol, Julien | Isidor, Bertrand | Logan, Clare | Shore, Roger | Johnson, Colin | Inglehearn, Christopher | Al-Bahlani, Suhaila | Schmittbuhl, Matthieu | Clauss, François | Huckert, Mathilde | Laugel, Virginie | Ginglinger, Emmanuelle | Pajarola, Sandra | Spartà, Giuseppina | Bartholdi, Deborah | Rauch, Anita | Addor, Marie-Claude | Yamaguti, Paulo M. | Safatle, Heloisa P. | Acevedo, Ana Carolina | Martelli-Júnior, Hercílio | dos Santos Netos, Pedro E. | Coletta, Ricardo D. | Gruessel, Sandra | Sandmann, Carolin | Ruehmann, Denise | Langman, Craig B. | Scheinman, Steven J. | Ozdemir-Ozenen, Didem | Hart, Thomas C. | Hart, P. Suzanne | Neugebauer, Ute | Schlatter, Eberhard | Houillier, Pascal | Gahl, William A. | Vikkula, Miikka | Bloch-Zupan, Agnès | Bleich, Markus | Kitagawa, Hiroshi | Unwin, Robert J. | Mighell, Alan | Berdal, Ariane | Kleta, Robert
Nephron. Physiology  2013;122(1-2):1-6.
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.
doi:10.1159/000349989
PMCID: PMC3782194  PMID: 23434854
Nephrolithiasis; Urolithiasis; Amelogenesis imperfecta; FAM20B; FAM20C

3.  Integrin α3 Mutations with Kidney, Lung, and Skin Disease 
The New England Journal of Medicine  2012;366(16):1508-1514.
SUMMARY
Integrin α3 is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α3 gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis.
doi:10.1056/NEJMoa1110813
PMCID: PMC3341404  PMID: 22512483

Results 1-3 (3)