MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1159/000349989

Медицинская библиотека · Nephron. Physiology · 2013

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

СтатьяResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: 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. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.. Nephron. Physiology. 2013. DOI: 10.1159/000349989.

Предметные рубрики MeSH

AdolescentAdultAmelogenesis ImperfectaChildConsanguinityDental Enamel ProteinsExomeFamily HealthFemaleGenes, RecessiveGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMutationNephrocalcinosisPedigreeSequence Analysis, DNASyndromeYoung Adult
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.