Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Autor: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature a

Externí odkaz: https://doaj.org/article/be19745ebc994351a79834498f898534

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Autor: Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Agnès Bloch-Zupan

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et

Externí odkaz: https://doaj.org/article/01127f8fcec14ddc9a2f598623e1360c

RSK2 is a modulator of craniofacial development.

Autor: Virginie Laugel-Haushalter, Marie Paschaki, Pauline Marangoni, Coralie Pilgram, Arnaud Langer, Thibaut Kuntz, Julie Demassue, Supawich Morkmued, Philippe Choquet, André Constantinesco, Fabien Bornert, Matthieu Schmittbuhl, Solange Pannetier, Laurent Viriot, André Hanauer, Pascal Dollé, Agnès Bloch-Zupan

Publikováno v: PLoS ONE, Vol 9, Iss 1, p e84343 (2014)

BackgroundThe RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofac

Externí odkaz: https://doaj.org/article/59354c677b234ef4aa0e1bfbf8185d97

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Autor: Marie-Paule Gelle, Reynaldo Antequera, Hélène Dollfus, Marie-Claude Cholette, Supawich Morkmued, Marzena Switala, Geert Mortier, Louis-Frédéric Jacquelin, Isabelle Bailleul-Forestier, Frédéric Obry, Jean Louis Raymond, Mathilde Huckert, Véronique Geoffroy, Agnès Bloch-Zupan, François Clauss, Wim Van Hul, Oana Caluseriu, Corinne Stoetzel, Marie-Cécile Manière, Joseph Hemmerlé, Jean-Luc Weickert, Virginie Laugel-Haushalter, Alain Verloes, Jean-Louis Coeuriot, Eveline Boudin, Sylvie Soskin, Ross McLeod, Pascal Dollé, Yves Alembik, Megana K. Prasad, Jean Muller, Eric Mathieu, Branka Dabovic, Annelies Dheedene, Daniel B. Rifkin, Débora Romeo Bertola

Publikováno v: Human Molecular Genetics
Human molecular genetics
HUMAN MOLECULAR GENETICS

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b52f4c0ce365b7b323af2f75b9313d
http://europepmc.org/articles/PMC4424950

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

Autor: Colin A. Johnson, Ariane Berdal, Craig B. Langman, Detlef Bockenhauer, P. Suzanne Hart, Alan J. Mighell, Pascal Houillier, Marie-Claude Addor, Denise Ruehmann, Naomi Issler, Alain Verloes, Arnaud Picard, Audrey Asselin, Gwenaelle Roussey, Mickael Quentric, Virginie Laugel, Cédric Le Caignec, H.P.N. Safatle, David A. McCredie, Hercílio Martelli-Júnior, Robert Kleta, Enriko Klootwijk, Thomas C. Hart, Agnès Bloch-Zupan, Miikka Vikkula, Toshiyasu Koike, Marie Lucile Figueres, Bertrand Isidor, Ricardo D. Coletta, Ana Carolina Acevedo, Sandra Gruessel, Hiroshi Kitagawa, Emmanuelle Ginglinger, James A. Poulter, Anita Rauch, Sue Povey, Ute Neugebauer, Graciana Jaureguiberry, Deborah Bartholdi, Stephen B. Walsh, Alexander J. Howie, Muriel De La Dure-Molla, Julien Guiol, Chris F. Inglehearn, Eberhard Schlatter, Jeremy K. Nicholson, Vaksha Patel, Markus Bleich, Robert J. Unwin, Matthieu Schmittbuhl, François Clauss, Horia Stanescu, Clare V. Logan, Steven J. Scheinman, Sandra Pajarola, Pedro E. Dos Santos Netos, Nina Himmerkus, Alan Medlar, Giuseppina Spartà, David A. Parry, Chris Laing, Aurore Coulomb, Suhaila Al-Bahlani, Carolin Sandmann, Isabelle Bailleul-Forestier, Paulo Marcio Yamaguti, Didem Ozdemir-Ozenen, Roger C. Shore, William A. Gahl, Mathilde Huckert, Steven L. Robinette

Publikováno v: Nephron. Physiology
Nephron. Physiology, vol. 122, no. 1-2, pp. 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, import

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a9da0d46a0cce56715c53f3a9ed3b8
https://doi.org/10.1159/000349989