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

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Autor: Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza

Publikováno v: Frontiers in Pediatrics, Vol 7 (2019)

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retar

Externí odkaz: https://doaj.org/article/c206529938ff4048af77d1de55595256

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features

Autor: Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, Björn Fischer-Zirnsak

Publikováno v: Genetics in Medicine. 24:1927-1940

In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy.In total, 5 affected individuals were investigated using exome sequencing. Dermal fibroblasts were characterized using RN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a757c26002f39f2be33630ad4c51a8dc
https://doi.org/10.1016/j.gim.2022.05.004

Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia

Autor: Asya Ekmen, Aurelie Meneret, Romain Valabregue, Benoit Beranger, Yulia Worbe, Jean-Charles Lamy, Sofien Mehdi, Anais Herve, Isaac Adanyeguh, Gizem Temiz, Philippe Damier, Domitille Gras, Agathe Roubertie, Juliette Piard, Vincent Navarro, Eugenie Mutez, Florence Riant, Quentin Welniarz, Marie Vidailhet, Stephane Lehericy, Sabine Meunier, Cecile Gallea, Emmanuel Roze

Publikováno v: Neurology. 98:e1077-e1089

Background and ObjectivesThe main culprit gene for paroxysmal kinesigenic dyskinesia, characterized by brief and recurrent attacks of involuntary movements, is PRRT2. The location of the primary dysfunction associated with paroxysmal dyskinesia remai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5642a0b2b7a3dfd95181274a7690231d
https://doi.org/10.1212/wnl.0000000000200060

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Autor: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg

Publikováno v: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 indiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153
https://lirias.kuleuven.be/handle/20.500.12942/704570