46 results on '"Latour, Philippe"'
Search Results
2. CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS
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Sun, Litao, Wei, Na, Kuhle, Bernhard, Blocquel, David, Novick, Scott, Matuszek, Zaneta, Zhou, Huihao, He, Weiwei, Zhang, Jingjing, Weber, Thomas, Horvath, Rita, Latour, Philippe, Pan, Tao, Schimmel, Paul, Griffin, Patrick R., and Yang, Xiang-Lei
- Published
- 2021
3. The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
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Ceprian, Maria, primary, Juntas-Morales, Raul, additional, Campbell, Graham, additional, Walther-Louvier, Ulrike, additional, Rivier, François, additional, Camu, William, additional, Esselin, Florence, additional, Echaniz-Laguna, Andoni, additional, Stojkovic, Tanya, additional, Bouhour, Françoise, additional, Latour, Philippe, additional, and Tricaud, Nicolas, additional
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- 2024
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4. Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
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Fernández-Eulate, Gorka, primary, Theuriet, Julian, additional, Record, Christopher J., additional, Querin, Giorgia, additional, Masingue, Marion, additional, Leonard-Louis, Sarah, additional, Behin, Anthony, additional, Le Forestier, Nadine, additional, Pegat, Antoine, additional, Michaud, Maud, additional, Chanson, Jean-Baptiste, additional, Nadaj-Pakleza, Aleksandra, additional, Tard, Celine, additional, Bedat-Millet, Anne-Laure, additional, Sole, Guilhem, additional, Spinazzi, Marco, additional, Salort-Campana, Emmanuelle, additional, Echaniz-Laguna, Andoni, additional, Poinsignon, Vianney, additional, Latour, Philippe, additional, Reilly, Mary M., additional, Bouhour, Francoise, additional, and Stojkovic, Tanya, additional
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- 2023
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5. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
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Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, and Stojkovic, Tanya
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- 2019
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6. Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
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Jacquier, Arnaud, primary, Theuriet, Julian, additional, Ribault, Shams, additional, Lacoste, Nicolas, additional, Pegat, Antoine, additional, Latour, Philippe, additional, and Schaeffer, Laurent, additional
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- 2023
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7. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
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Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, and Schaeffer, Laurent
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MOTOR neuron diseases ,UBIQUINONES ,SKIN biopsy ,DEVELOPMENTAL delay ,SIBLINGS - Abstract
Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G > T (p.1Met? ) was identified in the COQ7 gene. This gene encodes a protein required for Coenzyme Q10 biosynthesis, a component of the respiratory chain in mitochondria. Mutations of COQ7 were previously associated with severe multi-organ disorders characterized by early childhood onset and developmental delay. Using patient blood sample and fibroblasts derived from a skin biopsy, we investigated the pathogenicity of the variant of unknown significance c.3G > T (p.1Met? ) in the COQ7 gene and the effect of Coenzyme Q10 supplementation in vitro. We showed that this variation leads to a severe decrease in COQ7 protein levels in the patient's fibroblasts, resulting in a decrease in Coenzyme Q10 production, and in the accumulation of 6-demethoxycoenzyme Q10, the COQ7 substrate. Interestingly, such accumulation was also found in the patient's plasma. Normal Coenzyme Q10 and 6-demethoxycoenzyme Q10 levels were restored in vitro by using the Coenzyme Q10 precursor 2,4-dihydroxybenzoic acid, thus bypassing COQ7 requirement. Coenzyme Q10 biosynthesis deficiency is known to impair mitochondrial respiratory chain. Seahorse experiments showed that the patient's cells mainly rely on glycolysis to maintain sufficient ATP production. Consistently, the replacement of glucose by galactose in the culture medium of these cells reduced their proliferation rate. Interestingly, normal proliferation was restored by Coenzyme Q10 supplementation in the culture medium, suggesting a therapeutic avenue for these patients. Altogether, we have identified the first example of recessive distal hereditary motor neuropathy caused by a homozygous variation in the COQ7 gene, which should thus be included in the gene panels used to diagnose peripheral inherited neuropathies. Furthermore, 6-demethoxycoenzyme Q10 accumulation in the blood can be used to confirm the pathogenic nature of the mutation. Finally, supplementation with Coenzyme Q10 or derivatives should be considered to prevent the progression of COQ7-related peripheral inherited neuropathy in diagnosed patients. [ABSTRACT FROM AUTHOR]
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- 2023
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8. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
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Jacquier, Arnaud, primary, Theuriet, Julian, additional, Fontaine, Fanny, additional, Mosbach, Valentine, additional, Lacoste, Nicolas, additional, Ribault, Shams, additional, Risson, Valérie, additional, Carras, Julien, additional, Coudert, Laurent, additional, Simonet, Thomas, additional, Latour, Philippe, additional, Stojkovic, Tanya, additional, Piard, Juliette, additional, Cosson, Anne, additional, Lesca, Gaëtan, additional, Bouhour, Françoise, additional, Allouche, Stéphane, additional, Puccio, Hélène, additional, Pegat, Antoine, additional, and Schaeffer, Laurent, additional
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- 2022
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9. HINT1 neuropathy: Expanding the genotype and phenotype spectrum
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Morel, Victor, primary, Campana‐Salort, Emmanuelle, additional, Boyer, Amandine, additional, Esselin, Florence, additional, Walther‐Louvier, Ulrike, additional, Querin, Giorgia, additional, Latour, Philippe, additional, Lia, Anne‐Sophie, additional, Magdelaine, Corinne, additional, Beze‐Beyrie, Pierre, additional, Behin, Anthony, additional, Delague, Valérie, additional, Levy, Nicolas, additional, Stojkovic, Tanya, additional, Attarian, Shahram, additional, and Bonello‐Palot, Nathalie, additional
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- 2022
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10. The Spectrum of Niemann-Pick Type C Disease in Greece
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Mavridou, Irene, primary, Dimitriou, Evangelia, additional, Vanier, Marie T., additional, Vilageliu, Lluisa, additional, Grinberg, Daniel, additional, Latour, Philippe, additional, Xaidara, Athina, additional, Lycopoulou, Lilia, additional, Bostantjopoulou, Sevasti, additional, Zafeiriou, Dimitrios, additional, and Michelakakis, Helen, additional
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- 2017
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11. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
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Patterson, Marc C., Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M., Ory, Daniel S., Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T., Walterfang, Mark, and Marquardt, Thorsten
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- 2017
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12. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
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Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., and Héron, Bénédicte
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- 2018
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13. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, Abiusi, Emanuela (ORCID:0000-0001-9028-012X), Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, and Abiusi, Emanuela (ORCID:0000-0001-9028-012X)
- Abstract
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families. Methods Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants. Results We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes (CNTNAP1, MAGEL2, ADGRG6, ADCY6, GLDN, LGI4, LMOD3, UNC50 and SCN1A). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%). Conclusion New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes.
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- 2022
14. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
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Benquey, Thibaut, primary, Pion, Emmanuelle, additional, Cossée, Mireille, additional, Krahn, Martin, additional, Stojkovic, Tanya, additional, Perrin, Aurélien, additional, Cerino, Mathieu, additional, Molon, Annamaria, additional, Lia, Anne-Sophie, additional, Magdelaine, Corinne, additional, Francou, Bruno, additional, Guiochon-Mantel, Anne, additional, Malinge, Marie-Claire, additional, Leguern, Eric, additional, Lévy, Nicolas, additional, Attarian, Shahram, additional, Latour, Philippe, additional, and Bonello-Palot, Nathalie, additional
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- 2022
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15. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
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Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, and Andrieux, Joris
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- 2009
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16. Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
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UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, Hauw, Fabien, Fargeot, Guillaume, Adams, David, Attarian, Shahram, Cauquil, Cécile, Chanson, Jean-Baptiste, Créange, Alain, Gendre, Thierry, Deiva, Kumaran, Delmont, Emilien, Francou, Bruno, Genestet, Steeve, Kuntzer, Thierry, Latour, Philippe, Le Masson, Gwendal, Magy, Laurent, Nardin, Clotilde, Ochsner, François, Sole, Guilhem, Stojkovic, Tanya, Maisonobe, Thierry, Tard, Céline, Van den Bergh, Peter, Echaniz-Laguna, Andoni, UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, Hauw, Fabien, Fargeot, Guillaume, Adams, David, Attarian, Shahram, Cauquil, Cécile, Chanson, Jean-Baptiste, Créange, Alain, Gendre, Thierry, Deiva, Kumaran, Delmont, Emilien, Francou, Bruno, Genestet, Steeve, Kuntzer, Thierry, Latour, Philippe, Le Masson, Gwendal, Magy, Laurent, Nardin, Clotilde, Ochsner, François, Sole, Guilhem, Stojkovic, Tanya, Maisonobe, Thierry, Tard, Céline, Van den Bergh, Peter, and Echaniz-Laguna, Andoni
- Abstract
Charcot-Marie-Tooth (CMT) disease, an untreatable hereditary polyneuropathy, may mimic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a treatable neuropathy. In this retrospective study, we analyzed the characteristics of CMT patients misdiagnosed as CIDP at 16 university hospitals in three countries, compared these patients with a reference group of CIDP patients, and estimated the cost of misdiagnosis. Among 1104 CIDP cases, we identified 35 CMT patients misdiagnosed as CIDP (3.2%). All were initially diagnosed with definite or probable CIDP (European Federation of Neurological Societies/Peripheral Nerve Society criteria), and mutations in PMP22, MPZ, and 10 other CMT genes were found in 34%, 31%, and 35% of cases, respectively. In comparison with a reference group of 35 CIDP patients, CMT patients were younger (median age at disease onset = 39 vs. 56 years) and more frequently had motor weakness at disease onset (80% vs. 29%), hearing loss (14% vs. 0%), normal brachial plexus imaging (70% vs. 40%), lower cerebrospinal fluid protein content (median = 0.5 vs. 0.8 g/L), and lower treatment response (20% vs. 69%). Treatment cost in these 35 misdiagnosed patients was estimated at 4.6 million euros (M€), whereas the cost of CMT genetic analysis in 1104 patients was estimated at 2.7 M€. In this study, 35 of 1104 (3.2%) patients initially diagnosed with CIDP had CMT. Importantly, the cost of treating these 35 misdiagnosed patients was significantly higher than the cost of performing CMT genetic analysis in 1104 patients (4.6 M€ vs. 2.7 M€), suggesting that CMT genetic investigations should be more widely used before diagnosing CIDP.
- Published
- 2021
17. A major determinant for binding and aminoacylation of tRNA in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
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Latour, Philippe, Thauvin-Robinet, Christel, Baudelet-Mery, Chantal, Soichot, Pierre, Cusin, Veronica, Faivre, Laurence, Locatelli, Marie-Claire, Mayencon, Martine, Sarcey, Annie, Broussolle, Emmanuel, Camu, William, David, Albert, and Rousson, Robert
- Subjects
Charcot-Marie-Tooth disease -- Genetic aspects ,Charcot-Marie-Tooth disease -- Diagnosis ,Charcot-Marie-Tooth disease -- Care and treatment ,Gene mutations -- Research ,Nucleotide sequencing -- Usage ,Aminoacyl-tRNA -- Research ,Biological sciences - Abstract
A study analyzes two families with Charcot-Marie-Tooth disease (CMT) using genotyping and gene sequencing and identifies a unique mutation in a CMT2 locus, which affects a totally conserved amino acid in the helical domain of cytoplasmic alanyl-tRNA synthetase (AlaRS). It demonstrates that the mutation affects the binding and aminoacylation of tRNA in individuals with dominant axonal CMT, as the mutated amino acid is a major determinant of the functions.
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- 2010
18. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
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Laquérriere, Annie, Maluenda, Jérome, Camus, Adrien, Fontenas, Laura, Dieterich, Klaus, Nolent, Flora, Zhou, Jié, Monnier, Nicole, Latour, Philippe, Gentil, Damien, Héron, Delphine, Desguerres, Isabelle, Landrieu, Pierre, Beneteau, Claire, Delaporte, Benoit, Bellesme, Céline, Baumann, Clarisse, Capri, Yline, Goldenberg, Alice, Lyonnet, Stanislas, Bonneau, Dominique, Estournet, Brigitte, Quijano-Roy, Susana, Francannet, Christine, Odent, Sylvie, Saint-Frison, Marie-Hélène, Sigaudy, Sabine, Figarella-Branger, Dominique, Gelot, Antoinette, Mussini, Jean-Marie, Lacroix, Catherine, Drouin-Garraud, Valerie, Malinge, Marie-Claire, Attié-Bitach, Tania, Bessieres, Bettina, Bonniere, Maryse, Encha-Razavi, Ferechte, Beaufrère, Anne-Marie, Khung-Savatovsky, Suonary, Perez, Marie José, Vasiljevic, Alexandre, Mercier, Sandra, Roume, Joelle, Trestard, Laetitia, Saugier-Veber, Pascale, Cordier, Marie-Pierre, Layet, Valérie, Legendre, Marine, Vigouroux-Castera, Adeline, Lunardi, Joel, Bayes, Monica, Jouk, Pierre S., Rigonnot, Luc, Granier, Michèle, Sternberg, Damien, Warszawski, Josiane, Gut, Ivo, Gonzales, Marie, Tawk, Marcel, and Melki, Judith
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- 2014
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19. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
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Theuriet, Julian, Fernandez-Eulate, Gorka, Latour, Philippe, Stojkovic, Tanya, Masingue, Marion, Vidoni, Léo, Bernard, Emilien, Jacquier, Arnaud, Schaeffer, Laurent, Salort-Campana, Emmanuelle, Chanson, Jean-Baptiste, Pakleza, Aleksandra Nadaj, Kaminsky, Anne-Laure, Svahn, Juliette, Manel, Véronique, Bouhour, Françoise, and Pegat, Antoine
- Abstract
Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. While most patients carry a biallelic deletion in the SMN1gene (localized in chromosome 5q), little is known regarding patients without SMN1-mutation, and a genetic diagnosis is not always possible. Here, we report a cohort of 24 French patients with non-5q proximal SMA from five neuromuscular centers who all, except two, had next-generation sequencing (NGS) gene panel, followed by whole exome sequencing (WES) if gene panel showed a negative result. The two remaining patients benefited directly from WES or whole genome sequencing (WGS). A total of ten patients with causative variants were identified, nine of whom were index cases (9/23 families = 39%). Eight variants were identified by gene panel: five variants in DYNC1H1, and three in BICD2. Compound heterozygous causative variants in ASAH1were identified directly by WES, and one variant in DYNC1H1was identified directly by WGS. No causative variant was found using WES in patients with a previous panel with negative results (14 cases). We thus recommend using primarily NGS panels in patients with non-5q-SMA and using WES, especially when several members of the same family are affected and/or when trio analyses are possible, or WGS as second-line testing if available.
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- 2023
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20. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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Laquerriere, Annie, primary, Jaber, Dana, additional, Abiusi, Emanuela, additional, Maluenda, Jérome, additional, Mejlachowicz, Dan, additional, Vivanti, Alexandre, additional, Dieterich, Klaus, additional, Stoeva, Radka, additional, Quevarec, Loic, additional, Nolent, Flora, additional, Biancalana, Valerie, additional, Latour, Philippe, additional, Sternberg, Damien, additional, Capri, Yline, additional, Verloes, Alain, additional, Bessieres, Bettina, additional, Loeuillet, Laurence, additional, Attie-Bitach, Tania, additional, Martinovic, Jelena, additional, Blesson, Sophie, additional, Petit, Florence, additional, Beneteau, Claire, additional, Whalen, Sandra, additional, Marguet, Florent, additional, Bouligand, Jerome, additional, Héron, Delphine, additional, Viot, Géraldine, additional, Amiel, Jeanne, additional, Amram, Daniel, additional, Bellesme, Céline, additional, Bucourt, Martine, additional, Faivre, Laurence, additional, Jouk, Pierre-Simon, additional, Khung, Suonavy, additional, Sigaudy, Sabine, additional, Delezoide, Anne-Lise, additional, Goldenberg, Alice, additional, Jacquemont, Marie-Line, additional, Lambert, Laetitia, additional, Layet, Valérie, additional, Lyonnet, Stanislas, additional, Munnich, Arnold, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Guimiot, Fabien, additional, Landrieu, Pierre, additional, Letard, Pascaline, additional, Pelluard, Fanny, additional, Perrin, Laurence, additional, Saint-Frison, Marie-Hélène, additional, Topaloglu, Haluk, additional, Trestard, Laetitia, additional, Vincent-Delorme, Catherine, additional, Amthor, Helge, additional, Barnerias, Christine, additional, Benachi, Alexandra, additional, Bieth, Eric, additional, Boucher, Elise, additional, Cormier-Daire, Valerie, additional, Delahaye-Duriez, Andrée, additional, Desguerre, Isabelle, additional, Eymard, Bruno, additional, Francannet, Christine, additional, Grotto, Sarah, additional, Lacombe, Didier, additional, Laffargue, Fanny, additional, Legendre, Marine, additional, Martin-Coignard, Dominique, additional, Mégarbané, André, additional, Mercier, Sandra, additional, Nizon, Mathilde, additional, Rigonnot, Luc, additional, Prieur, Fabienne, additional, Quélin, Chloé, additional, Ranjatoelina-Randrianaivo, Hanitra, additional, Resta, Nicoletta, additional, Toutain, Annick, additional, Verhelst, Helene, additional, Vincent, Marie, additional, Colin, Estelle, additional, Fallet-Bianco, Catherine, additional, Granier, Michèle, additional, Grigorescu, Romulus, additional, Saada, Julien, additional, Gonzales, Marie, additional, Guiochon-Mantel, Anne, additional, Bessereau, Jean-Louis, additional, Tawk, Marcel, additional, Gut, Ivo, additional, Gitiaux, Cyril, additional, and Melki, Judith, additional
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- 2021
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21. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
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Leimkühler, Silke, Charcosset, Mathilde, Latour, Philippe, Dorche, Claude, Kleppe, Soledad, Scaglia, Fernando, Szymczak, Irmina, Schupp, Petra, Hahnewald, Rita, and Reiss, Jochen
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- 2005
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22. X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene
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Ressot, Catherine, Latour, Philippe, Blanquet-Grossard, Françoise, Sturtz, Franck, Duthel, Sylvie, Battin, Jacques, Corbillon, Emmanuel, Ollagnon, Elizabeth, Serville, Françoise, Vandenberghe, Antoon, Dautigny, André, and Pham-Dinh, D.
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- 1996
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23. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
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Morlé, Laurette, Bozon, Muriel, Alloisio, Nicole, Latour, Philippe, Vandenberghe, Antoon, Plauchu, Henri, Collet, Lionel, Edery, Patrick, Godet, Jacqueline, and Lina-Granade, Geneviève
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- 2000
24. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
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Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, and Vanier Marie T
- Subjects
Niemann-Pick disease type C ,Paediatric ,Miglustat ,Medicine - Abstract
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are limited. We report findings from a prospective open-label study in the French paediatric NP-C cohort. Methods Data on all paediatric NP-C patients treated with miglustat in France between October 2006 and December 2010 were compiled. All patients had a confirmed diagnosis of NP-C, and received miglustat therapy according to manufacturer’s recommendations. Pre-treatment and follow-up assessments were conducted according to a standardized protocol. Results Twenty children were enrolled; 19 had NPC1 gene mutations and 1 had NPC2 gene mutations. The median age at diagnosis was 1.5 years, and the median age at miglustat initiation was 6.0 years. Eight NPC1 patients had the early-infantile, eight had the late-infantile, and three had the juvenile-onset forms of NP-C. A history of hepatosplenomegaly and/or other cholestatic symptoms was recorded in all 8 early-infantile onset patients, 3/8 late-infantile patients, and 1/3 juvenile onset patients. Brain imaging indicated white matter abnormalities in most patients. The median (range) duration of miglustat therapy was 1.3 (0.6–2.3) years in early-infantile, 1.0 (0.8–5.0) year in late-infantile, and 1.0 (0.6–2.5) year in juvenile onset patients. NP-C disability scale scores indicated either stabilization or improvement of neurological manifestations in 1/8, 6/8, and 1/3 NPC1 patients in these subgroups, respectively. There were no correlations between brain imaging findings and disease course. Mild-to-moderate gastrointestinal disturbances were frequent during the first 3 months of miglustat therapy, but were easily managed with dietary modifications and/or anti-propulsive medication. Conclusions Miglustat can improve or stabilize neurological manifestations in paediatric patients with the late-infantile and juvenile-onset forms of NP-C. Among early-infantile onset patients, a shorter delay between neurological disease onset and miglustat initiation was associated with an initial better therapeutic outcome in one patient, but miglustat did not seem to modify overall disease course in this subgroup. More experience is required with long-term miglustat therapy in early-infantile onset patients treated from the very beginning of neurological manifestations.
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- 2012
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25. Towards an harmonization of diagnosis by NGS of neuromuscular diseases: Actions of the Molecular Genetics sub-group of FILNEMUS
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Perrin, Aurélien, Latour, Philippe, Procaccio, Vincent, Jardel, Claude, Cerino, Mathieu, Bonne, Gisèle, Salort-Campana, Emmanuelle, Urtizberea, J. Andoni, Pouget, Jean, Krahn, Martin, Cossée, Mireille, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), GRC Neurométabolisme, Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), Hôpital Marin, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en Myologie – U974 SU-INSERM, Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,ComputingMilieux_MISCELLANEOUS ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience
- Published
- 2018
26. Additional file 1: of Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
- Author
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Nadjar, Yann, Hütter-Moncada, Ana, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, Gaillarbois, Thierry De, Roze, Emmanuel, Foudil Lamari, Vanier, Marie, and Héron, Bénédicte
- Abstract
Table S1. Individual patient data summary. (DOCX 33 kb)
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- 2018
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27. Towards the harmonization of high-throughput sequencing diagnosis of neuromuscular diseases Actions of Molecular Genetic Subcommission of Filnemus
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Perrin, Aurelien, Latour, Philippe, Procaccio, Vincent, Jardel, Claude, Cerino, Mathieu, Salort-Campana, Emmanuelle, Urtizberea, J. Andoni, Pouget, Jean, Krahn, Martin, Cossee, Mireille, Bonne, Gisele, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Filière Neuromusculaire (FILNEMUS), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre de recherche en Myologie – U974 SU-INSERM
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2018
28. Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires: Actions de la sous-commission Génétique Moléculaire de Filnemus
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Perrin, Aurélien, Latour, Philippe, Procaccio, Vincent, Jardel, Claude, Cerino, Mathieu, Bonne, Gisèle, Salort-Campana, Emmanuelle, Urtizberea, J. Andoni, Pouget, Jean, Krahn, Martin, Cossée, Mireille, Gestionnaire, Hal Sorbonne Université, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), GRC Neurométabolisme, Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), Hôpital Marin, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Institut de Génétique Moléculaire de Montpellier (IGMM), and Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)
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[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,ComputingMilieux_MISCELLANEOUS ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience
- Published
- 2018
29. In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History
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Colin, Estelle, Barth, Magalie, Boussion, F, Latour, Philippe, Piguet-Lacroix, G, Guichet, Agnés, Ziegler, Alban, Triau, Stéphane, Loisel, D, Sentilhes, Loic, Bonneau, Dominique, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
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Free Sialic Acid ,Lysosomal Storage Disease ,NPC2 Gene ,Lipid Storage Disease ,Unesterified Cholesterol ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; Niemann-Pick type C (NPC) disease is a recessive disorder that results in unesterified cholesterol accumulating in the lysosomal and late endosomal system. It is caused by mutations in NPC1 or NPC2 genes and leads to systemic and neurodegenerative symptoms. Few cases of prenatal presentation of NPC have been reported and only two cases in the absence of previous family history, indicating the diagnosis is particularly difficult in such a situation. We report a prenatal diagnosis of NPC in a couple without family history. An ultrasound screening at 22 weeks of gestation (WG) detected fetal ascites and hepatomegaly, which were still present at 25, 27, and 29 WG, and a splenomegaly progressively appeared. No placentomegaly or other signs of hydrops fetalis were observed. The diagnostic of NPC was prenatally confirmed by a filipin test and NPC1 sequencing and multiplex ligation-dependent probe amplification assay which revealed a maternal missense mutation (c.2608T>C; p.Ser870Pro) and a paternal deletion of exons 5 to 25. This additional prenatal case of NPC suggests that even in the absence of family history, fetal ascites associated with splenomegaly but no hydrops should nonetheless arouse suspicion concerning this disease as a possible diagnosis.
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- 2016
30. LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
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Pettazzoni, Magali, primary, Froissart, Roseline, additional, Pagan, Cécile, additional, Vanier, Marie T., additional, Ruet, Séverine, additional, Latour, Philippe, additional, Guffon, Nathalie, additional, Fouilhoux, Alain, additional, Germain, Dominique P., additional, Levade, Thierry, additional, Vianey-Saban, Christine, additional, Piraud, Monique, additional, and Cheillan, David, additional
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- 2017
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31. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
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Jacquier, Arnaud, primary, Delorme, Cécile, additional, Belotti, Edwige, additional, Juntas-Morales, Raoul, additional, Solé, Guilhem, additional, Dubourg, Odile, additional, Giroux, Marianne, additional, Maurage, Claude-Alain, additional, Castellani, Valérie, additional, Rebelo, Adriana, additional, Abrams, Alexander, additional, Züchner, Stephan, additional, Stojkovic, Tanya, additional, Schaeffer, Laurent, additional, and Latour, Philippe, additional
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- 2017
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32. High intra-familiar clinical variability in MORC2 mutated CMT2 patients
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Semplicini, Claudio, primary, Ollagnon-Roman, Elisabeth, additional, Leonard-Louis, Sarah, additional, Piguet-Lacroix, Guenaelle, additional, Silvestre, Manon, additional, Latour, Philippe, additional, and Stojkovic, Tanya, additional
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- 2017
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33. LRSAM1variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
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Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, and Stojkovic, Tanya
- Abstract
Currently only 25–30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. We collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French laboratories. Seventy-two patients with autosomal dominant inheritance were identified. The disease usually started in the fourth decade and the clinical picture was dominated by sensory ataxia (80%), neuropathic pain (38%), and length-dependent sensory loss to all modalities. Electrophysiological studies showed a primarily axonal neuropathy, with possible isolated sensory involvement in milder phenotypes. Disease severity varied greatly but the clinical course was generally mild. We identified 2 novel variants in LRSAM1gene: a deletion of 4 amino acids, p.(Gln698_Gln701del), was found in 7 families and a duplication of a neighboring region of 10 amino acids, p.(Pro702_Gln711dup), in the remaining family. A common haplotype of ~450 kb suggesting a founder effect was noted around LRSAM1in 4 families carrying the first variant. LRSAM1 geneencodes for an E3 ubiquitin ligase important for neural functioning. Our results confirm the localization of variants in its catalytic C-terminal RING domain and broaden the phenotypic spectrum of LRSAM1-related neuropathies, including painful and predominantly sensory ataxic forms.
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- 2019
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34. Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
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Zech, Michael, primary, Nübling, Georg, additional, Castrop, Florian, additional, Jochim, Angela, additional, Schulte, Eva C., additional, Mollenhauer, Brit, additional, Lichtner, Peter, additional, Peters, Annette, additional, Gieger, Christian, additional, Marquardt, Thorsten, additional, Vanier, Marie T., additional, Latour, Philippe, additional, Klünemann, Hans, additional, Trenkwalder, Claudia, additional, Diehl-Schmid, Janine, additional, Perneczky, Robert, additional, Meitinger, Thomas, additional, Oexle, Konrad, additional, Haslinger, Bernhard, additional, Lorenzl, Stefan, additional, and Winkelmann, Juliane, additional
- Published
- 2013
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- View/download PDF
35. Induction of Multi-Functional T Cells in a Phase I Clinical Trial of Dendritic Cell Immunotherapy in Hepatitis C Virus Infected Individuals
- Author
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Li, Shuo, primary, Roberts, Stuart, additional, Plebanski, Magdalena, additional, Gouillou, Maelenn, additional, Spelman, Tim, additional, Latour, Philippe, additional, Jackson, David, additional, Brown, Lorena, additional, Sparrow, Rosemary L., additional, Prince, H. Miles, additional, Hart, Derek, additional, Loveland, Bruce E., additional, and Gowans, Eric J., additional
- Published
- 2012
- Full Text
- View/download PDF
36. Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene
- Author
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Blanquet-Grossard, Françoise, primary, Pham-Dinh, Danielle, additional, Dautigny, André, additional, Latour, Philippe, additional, Bonnebouche, Christine, additional, Corbillon, Emmanuel, additional, Chazot, Guy, additional, and Vandenberghe, Antoon, additional
- Published
- 2008
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37. Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders
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Bernard, Rafaëlle, primary, Boyer, Amandine, additional, Nègre, Philippe, additional, Malzac, Perrine, additional, Latour, Philippe, additional, Vandenberghe, Antoon, additional, Philip, Nicole, additional, and Lévy, Nicolas, additional
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- 2002
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38. Polymorphic Short Tandem Repeats for Diagnosis of the Charcot-Marie-Tooth 1A Duplication
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Latour, Philippe, primary, Boutrand, Laetitia, primary, Levy, Nicolas, primary, Bernard, Rafaëlle, primary, Boyer, Amandine, primary, Claustrat, Francine, primary, Chazot, Guy, primary, Boucherat, Michel, primary, and Vandenberghe, Antoon, primary
- Published
- 2001
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- View/download PDF
39. Induction of Multi-Functional T Cells in a Phase I Clinical Trial of Dendritic Cell Immunotherapy in Hepatitis C Virus Infected Individuals.
- Author
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Shuo Li, Roberts, Stuart, Plebanski, Magdalena, Gouillou, Maelenn, Spelman, Tim, Latour, Philippe, Jackson, David, Brown, Lorena, Sparrow, Rosemary L., Prince, H. Miles, Hart, Derek, Loveland, Bruce E., Gowans, Eric J., and Shoukry, Naglaa H.
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HEPATITIS C virus ,CLINICAL trials ,DENDRITIC cells ,VIRAL load ,CELLULAR immunity ,HEPATITIS viruses - Abstract
We have previously reported a world-first phase I clinical trial to treat HCV patients using monocyte-derived dendritic cells (Mo-DC) loaded with HCV- specific lipopeptides. While the brief treatment proved to be safe, it failed to reduce the viral load and induced only transient cell-mediated immune responses, measured by IFNc ELIspot. Here we reanalysed the PBMC samples from this trial to further elucidate the immunological events associated with the Mo-DC therapy. We found that HCV-specific single- and multi-cytokine secreting T cells were induced by the Mo-DC immunotherapy in some patients, although at irregular intervals and not consistently directed to the same HCV antigen. Despite the vaccination, the responses were generally poor in quality and comprised of primarily single-cytokine secreting cells. The frequency of FOXP3
+ regulatory T cells (Treg) fluctuated following DC infusion and eventually dropped to below baseline by week 12, an interesting trend suggesting that the vaccination may have resulted in a more subtle outcome than was initially apparent. Our data suggested that Mo-DC therapy induced complex immune responses in vivo that may or may not lead to clinical benefit. [ABSTRACT FROM AUTHOR]- Published
- 2012
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- View/download PDF
40. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
- Author
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H�ron, B�n�dicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, H�l�ne, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, Fran�ois, Maurey, H�l�ne, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Fr�d�ric, and Vanier, Marie T.
- Subjects
NIEMANN-Pick diseases ,SPHINGOLIPIDOSES ,GENETIC mutation ,JUVENILE diseases - Abstract
Background: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are limited. We report findings from a prospective open-label study in the French paediatric NP-C cohort. Methods: Data on all paediatric NP-C patients treated with miglustat in France between October 2006 and December 2010 were compiled. All patients had a confirmed diagnosis of NP-C, and received miglustat therapy according to manufacturer's recommendations. Pre-treatment and follow-up assessments were conducted according to a standardized protocol. Results: Twenty children were enrolled; 19 had NPC1 gene mutations and 1 had NPC2 gene mutations. The median age at diagnosis was 1.5 years, and the median age at miglustat initiation was 6.0 years. Eight NPC1 patients had the early-infantile, eight had the late-infantile, and three had the juvenile-onset forms of NP-C. A history of hepatosplenomegaly and/or other cholestatic symptoms was recorded in all 8 early-infantile onset patients, 3/8 late-infantile patients, and 1/3 juvenile onset patients. Brain imaging indicated white matter abnormalities in most patients. The median (range) duration of miglustat therapy was 1.3 (0.6-2.3) years in early-infantile, 1.0 (0.8-5.0) year in late-infantile, and 1.0 (0.6-2.5) year in juvenile onset patients. NP-C disability scale scores indicated either stabilization or improvement of neurological manifestations in 1/8, 6/8, and 1/3 NPC1 patients in these subgroups, respectively. There were no correlations between brain imaging findings and disease course. Mild-to-moderate gastrointestinal disturbances were frequent during the first 3 months of miglustat therapy, but were easily managed with dietary modifications and/or anti-propulsive medication. Conclusions: Miglustat can improve or stabilize neurological manifestations in paediatric patients with the lateinfantile and juvenile-onset forms of NP-C. Among early-infantile onset patients, a shorter delay between neurological disease onset and miglustat initiation was associated with an initial better therapeutic outcome in one patient, but miglustat did not seem to modify overall disease course in this subgroup. More experience is required with long-term miglustat therapy in early-infantile onset patients treated from the very beginning of neurological manifestations. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
41. A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
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Latour, Philippe, Thauvin-Robinet, Christel, Baudelet-Méry, Chantal, Soichot, Pierre, Cusin, Veronica, Faivre, Laurence, Locatelli, Marie-Claire, Mayençon, Martine, Sarcey, Annie, Broussolle, Emmanuel, Camu, William, David, Albert, and Rousson, Robert
- Subjects
- *
AMINOACYLATION , *TRANSFER RNA , *ALANYL-trna synthetase , *GENETIC mutation , *CHARCOT-Marie-Tooth disease , *PERIPHERAL neuropathy - Abstract
Charcot-Marie-Tooth disease (CMT) is the most common cause of inherited peripheral neuropathy, with an estimated frequency of 1/2500. We studied a large family with 17 patients affected by the axonal form of CMT (CMT2). Analysis of the 15 genes or loci known to date was negative. Genome-wide genotyping identified a CMT2 locus in 16q21-q23 between D16S3050 and D16S3106. The maximum two-point LOD score was 4.77 at θ = 0 for marker D16S3050. Sequencing of candidate genes identified a unique mutation, c.986G>A (p.Arg329His), affecting a totally conserved amino acid in the helical domain of cytoplasmic alanyl-tRNA synthetase (AlaRS). A second family with the same mutation and a different founder was then identified in a cohort of 91 CMT2 families. Although mislocation of mutant Arg329His-AlaRS in axons remains to be evaluated, experimental data point mostly to a quantitative reduction in tRNAAla aminoacylation. Aminoacylation and editing functions closely cooperate in AlaRS, and Arg329His mutation could also lead to qualitative errors participating in neurodegeneration. Our report documents in 18 patients the deleterious impact of a mutation in human cytoplasmic AlaRS and broadens the spectrum of defects found in tRNA synthetases. Patients present with sensory-motor distal degeneration secondary to predominant axonal neuropathy, slight demyelination, and no atypical or additional CNS features. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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42. Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene.
- Author
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Blanquet-Grossard, Françoise, Pham-Dinh, Danielle, Dautigny, André, Latour, Philippe, Bonnebouche, Christine, Corbillon, Emmanuel, Chazot, Guy, and Vandenberghe, Antoon
- Published
- 1995
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43. Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases.
- Author
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Berling E, Latour P, Loiselet K, Guémy C, Vidoni L, Romero NB, Lacene E, Evangelista T, and Stojkovic T
- Abstract
Objectives: The objective of this study was to expand the phenotypic spectrum of infantile-onset multisystem neurologic, endocrine, and pancreatic disease type 1 (IMNEPD1) and highlight the importance of analyzing the PTRH2 gene in patients with neuropathy presenting with pancreatic lipomatosis., Methods: Two sisters, aged 73 and 71 years, respectively, presented a severe, length-dependent sensorimotor axonal neuropathy, associated with deafness and intellectual deficiency., Results: They both needed a wheelchair from the fourth decade. They developed a severe respiratory dysfunction, requiring nocturnal noninvasive ventilation from around 50 years of age. The younger sister developed severe dysphagia complicated by aspiration pneumonia. A muscle biopsy of the younger sister was suggestive of mitochondrial myopathy. The youngest presented a complete pancreatic lipomatosis. A biallelic novel likely pathogenic variant within PTRH2 , c.254A>G (p.Gln85Arg), was evidenced in both patients., Discussion: IMNEPD1 is a rare autosomal recessive disorder caused by sequence variant in the PTRH2 gene and characterized by a peripheral neuropathy, cerebellar atrophy, intellectual disability, hearing loss, pancreatic insufficiency, hypothyroidism, and dysmorphic features. In addition to these classic manifestations of the disorder, severe dysphagia and respiratory insufficiency may develop over the course of the disease and should be systematically screened. PTRH2 gene should be considered in patients with pancreatic lipomatosis and neuropathy., Competing Interests: The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2024
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44. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
- Author
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Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, and Schaeffer L
- Subjects
- Male, Humans, Child, Preschool, Mutation genetics, Ataxia genetics, Ubiquinone therapeutic use, Mitochondrial Diseases drug therapy, Mitochondrial Diseases genetics
- Abstract
Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.1Met?) was identified in the COQ7 gene. This gene encodes a protein required for coenzyme Q10 biosynthesis, a component of the respiratory chain in mitochondria. Mutations of COQ7 were previously associated with severe multi-organ disorders characterized by early childhood onset and developmental delay. Using patient blood samples and fibroblasts derived from a skin biopsy, we investigated the pathogenicity of the variant of unknown significance c.3G>T (p.1Met?) in the COQ7 gene and the effect of coenzyme Q10 supplementation in vitro. We showed that this variation leads to a severe decrease in COQ7 protein levels in the patient's fibroblasts, resulting in a decrease in coenzyme Q10 production and in the accumulation of 6-demethoxycoenzyme Q10, the COQ7 substrate. Interestingly, such accumulation was also found in the patient's plasma. Normal coenzyme Q10 and 6-demethoxycoenzyme Q10 levels were restored in vitro by using the coenzyme Q10 precursor 2,4-dihydroxybenzoic acid, thus bypassing the COQ7 requirement. Coenzyme Q10 biosynthesis deficiency is known to impair the mitochondrial respiratory chain. Seahorse experiments showed that the patient's cells mainly rely on glycolysis to maintain sufficient ATP production. Consistently, the replacement of glucose by galactose in the culture medium of these cells reduced their proliferation rate. Interestingly, normal proliferation was restored by coenzyme Q10 supplementation of the culture medium, suggesting a therapeutic avenue for these patients. Altogether, we have identified the first example of recessive distal hereditary motor neuropathy caused by a homozygous variation in the COQ7 gene, which should thus be included in the gene panels used to diagnose peripheral inherited neuropathies. Furthermore, 6-demethoxycoenzyme Q10 accumulation in the blood can be used to confirm the pathogenic nature of the mutation. Finally, supplementation with coenzyme Q10 or derivatives should be considered to prevent the progression of COQ7-related peripheral inherited neuropathy in diagnosed patients., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.)
- Published
- 2023
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45. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
- Author
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Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, and Melki J
- Subjects
- Genomics, Humans, Pedigree, Phenotype, Proteins genetics, Transcription Factors genetics, Exome Sequencing, Arthrogryposis diagnosis, Arthrogryposis genetics, Arthrogryposis pathology
- Abstract
Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families., Methods: Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants., Results: We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes ( CNTNAP1 , MAGEL2 , ADGRG6 , ADCY6 , GLDN , LGI4 , LMOD3 , UNC50 and SCN1A ). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%)., Conclusion: New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2022
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46. [Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
- Author
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Perrin A, Latour P, Procaccio V, Jardel C, Cérino M, Bonne G, Salort-Campana E, Urtizberea JA, Pouget J, Krahn M, and Cossée M
- Subjects
- High-Throughput Nucleotide Sequencing standards, Humans, Muscular Dystrophies diagnosis, Muscular Dystrophies genetics, Neuromuscular Diseases genetics, High-Throughput Nucleotide Sequencing methods, Neuromuscular Diseases diagnosis
- Published
- 2018
- Full Text
- View/download PDF
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