– A novel  COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a  COL1-related overlap disorder.
Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan.
Clin Case Rep, 2021 Jun 26, PMID: 34484741 PMCID: PMC8405372 DOI: 10.1002/ccr3.4128

– A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Bobby G Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J Bamshad et al.
Am J Hum Genet, 2021 Jun 3, PMID: 33964207 PMCID: PMC8206404 DOI: 10.1016/j.ajhg.2021.04.013

– Assessing bleeding risk in 18 children with Osteogenesis imperfecta.
Teddy Léguillier, Rémi Favier, Annie Harroche, Dominique Lasne, Christilla Bachelot-Loza, Delphine Borgel, Agathe Boussaroque, Tiffany Pascreau, Pauline Lallemant-Dudek, Vasiliki Gkalea, Marie-Clotilde Haguet, Valérie Cormier-Daire
Br J Haematol, 2021 Feb, PMID: 33475155 DOI: 10.1111/bjh.17303

– Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.
Johanne Dubail, Valérie Cormier-Daire
Front Genet, 2021 Jun 16, PMID: 34220933 PMCID: PMC8242584 DOI: 10.3389/fgene.2021.642097

– Inherited Proteoglycan Biosynthesis Defects-Current Laboratory Tools and Bikunin as a Promising Blood Biomarker.
Walid Haouari, Johanne Dubail, Christian Poüs, Valérie Cormier-Daire, Arnaud Bruneel
Genes (Basel), 2021 Oct 20, PMID: 34828260 PMCID: PMC8625474 DOI: 10.3390/genes12111654

– Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier-Daire
J Bone Miner Res, 2020 Aug, PMID: 32181939 DOI: 10.1002/jbmr.4011

– Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, François Lecoquierre, Fatma Daoud, Paul Kuentz, Caroline Cabret, Julien Thevenon, Elodie Gautier, Patrick Callier, Judith St-Onge, Thibaud Jouan, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Julien Van-Gils, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire, Geneviève Baujat, Muriel Holder, Florence Petit, Bruno Leheup, Sylvie Oden, Pierre-Simon Jouk, Gipsy Lopez, David Geneviève, Patrick Collignon, Dominique Martin-Coignard, Aurélia Jacquette, Laurence Perrin, Audrey Putoux, Elisabeth Sarrazin, Khadija Amarof, Isabelle Missotte, Christine Coubes, Sujatha Jagadeesh, Elisabetta Lapi, Florence Demurger, Alice Goldenberg, Martine Doco-Fenzy, Cyril Mignot, Delphine Héron, Nolwenn Jean-Marçais, Alice Masurel, Salima El Chehadeh, Nathalie Marle, Frédéric Hue, Christine Binquet, Gwenaëlle Collod-Beroud, Pauline Arnaud, Nadine Hanna, Catherine Boileau, Guillaume Jondeau, Robert Olaso, Doris Lechner, Charlotte Poe, Mirna Assoum, Virginie Carmignac, Laurence Duplomb, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Ange-Line Bruel, Anne Boland, Jean-François Deleuze, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Brian J O’Roak, Laurence Faivre
J Med Genet, 2020 Jul, PMID: 32277047 DOI: 10.1136/jmedgenet-2019-106425

– Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J H Baars, Catherine Boileau, Dominique Bonneau, Anne Claire Brehin, Yline Capri, Ho Y Cheung, Eelco Dulfer, Marion Gerard, Laurent Gouya, Yvonne Hilhorst-Hofstee, Arjan C Houweling, Bertrand Isidor, Lauriane Le Gloan, Leonie A Menke, Sylvie Odent, Fanny Morice-Picard, Clemence Vanlerberghe, Els Voorhoeve, J Peter van Tintelen, Alessandra Maugeri, Pauline Arnaud
Clin Genet, 2020 May, PMID: 31898322 DOI: 10.1111/cge.13700

– Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Walid Haouari, Johanne Dubail, Samra Lounis-Ouaras, Pierre Prada, Rizk Bennani, Charles Roseau, Céline Huber, Alexandra Afenjar, Estelle Colin, Sandrine Vuillaumier-Barrot, Nathalie Seta, François Foulquier, Christian Poüs, Valérie Cormier-Daire, Arnaud Bruneel
J Inherit Metab Dis, 2020 Nov, PMID: 32700771 DOI: 10.1002/jimd.12291

– Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D Overton, Jing Xiao, Ariel F Martinez, Maximilian Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah H Elsea, Valérie Cormier-Daire, Carlos R Ferreira
Bone, 2020 Apr, PMID: 31923704 DOI: 10.1016/j.bone.2019.115219

What is Non-Vascular Ehlers-Danlos Syndromes? What are the main warning symptoms that can lead to this diagnosis? What are the differential diagnoses to be ruled out? How to establish the diagnosis? What are the first-line examinations that the attending physician can perform before referring patients to a reference center?
Dr Caroline Michot, geneticist, hospital practitioner at the Necker-Enfants malades hospital and coordinator of the recent PNDS on non-vascular Ehlers-Danlos Syndromes under the aegis of the OSCAR network, answers the questions.
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What are the warning signs that should lead one to think of generalized joint hyperlaxity? How to measure hyperlaxity? When faced with a patient suffering from hyperlaxity, what are the symptoms that may suggest Ehlers-Danlos syndrome? What are the first-line diagnostic tests to be carried out before referring these patients to an expert centre?
Dr Fabrice Gillas, sports physician, hospital practitioner at the non-vascular Ehlers-Danlos syndrome reference center at the Raymond-Poincaré hospital in Garches, answers these questions.
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What is the osteoarticular management of non-vascular Ehlers-Danlos syndromes? What role does therapeutic education play in the management of patients; how can it be integrated into the care plan? In case of suspicion or diagnosis of Non-Vascular Ehlers-Danlos Syndrome, why should practitioners be advised to refer patients to an expert centre?
Dr Karelle Bénistan, clinical doctor, head of the rare disease consultations at the Non-Vascular Ehlers-Danlos syndrome reference center at the Raymond-Poincaré Hospital in Garches and coordinator of the recent PNDS on Non-Vascular Ehlers-Danlos syndromes under the aegis of the OSCAR network, answers the questions.
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How do the first symptoms of the disease occur? What is the experience of diagnostic errancy? The announcement of a diagnosis? What is the role of an expert patient? What are the objectives of the UNSED association (National Union for Ehlers-Danlos syndromes)?
Mrs Gisclard, expert patient – resource, suffering from Hypermobile Ehlers-Danlos syndrome, representative of health users and president of the association UNSED – National Union for Ehlers-Danlos syndromes, answers questions.
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