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1. Comparison of the ABC and ACMG systems for variant classification

Author

Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J., Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L., Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M., Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M., Haanpää, Maria K., Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I., Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T., and Laner, Andreas

Published
2024
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2. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Author

Manzoni, Eleonora, primary, Carli, Sara, additional, Gaignard, Pauline, additional, Schlieben, Lea Dewi, additional, Hirano, Michio, additional, Ronchi, Dario, additional, Gonzales, Emmanuel, additional, Shimura, Masaru, additional, Murayama, Kei, additional, Okazaki, Yasushi, additional, Barić, Ivo, additional, Petkovic Ramadza, Danijela, additional, Karall, Daniela, additional, Mayr, Johannes, additional, Martinelli, Diego, additional, La Morgia, Chiara, additional, Primiano, Guido, additional, Santer, René, additional, Servidei, Serenella, additional, Bris, Céline, additional, Cano, Aline, additional, Furlan, Francesca, additional, Gasperini, Serena, additional, Laborde, Nolwenn, additional, Lamperti, Costanza, additional, Lenz, Dominic, additional, Mancuso, Michelangelo, additional, Montano, Vincenzo, additional, Menni, Francesca, additional, Musumeci, Olimpia, additional, Nesbitt, Victoria, additional, Procopio, Elena, additional, Rouzier, Cécile, additional, Staufner, Christian, additional, Taanman, Jan-Willem, additional, Tal, Galit, additional, Ticci, Chiara, additional, Cordelli, Duccio Maria, additional, Carelli, Valerio, additional, Procaccio, Vincent, additional, Prokisch, Holger, additional, and Garone, Caterina, additional

Published
2024
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4. Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Author

Rouzier, Cécile, Pion, Emmanuelle, Chaussenot, Annabelle, Bris, Céline, Ait‐El‐Mkadem Saadi, Samira, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Fragaki, Konstantina, Amati‐Bonneau, Patrizia, Barcia, Giulia, Gaignard, Pauline, Steffann, Julie, Pennisi, Alessandra, Bonnefont, Jean‐Paul, Lebigot, Elise, Bannwarth, Sylvie, Francou, Bruno, Rucheton, Benoit, Sternberg, Damien, and Martin‐Negrier, Marie‐Laure

Subjects
*MITOCHONDRIAL pathology, *WHOLE genome sequencing, *GENETIC testing, *NEUROMUSCULAR transmission, *GENETIC variation, *NEUROMUSCULAR diseases
Abstract

Objective: The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitochondrial nuclear‐encoded genes. Methods: Over 2000 patients suspected of Primary Mitochondrial Diseases (PMD) were sequenced by either targeted gene panels, WES or WGS within MitoDiag. We described the clinical, biochemical, and molecular data of 397 genetically confirmed patients, comprising 294 children and 103 adults, carrying pathogenic or likely pathogenic variants in nuclear‐encoded genes. Results: The cohort exhibited a large genetic heterogeneity, with the identification of 172 distinct genes and 253 novel variants. Among children, a notable prevalence of pathogenic variants in genes associated with oxidative phosphorylation (OXPHOS) functions and mitochondrial translation was observed. In adults, pathogenic variants were primarily identified in genes linked to mtDNA maintenance. Additionally, a substantial proportion of patients (54% (42/78) and 48% (13/27) in children and adults, respectively), undergoing WES or WGS testing displayed PMD mimics, representing pathologies that clinically resemble mitochondrial diseases. Interpretation: We reported the largest French cohort of patients suspected of PMD with pathogenic variants in nuclear genes. We have emphasized the clinical complexity of PMD and the challenges associated with recognizing and distinguishing them from other pathologies, particularly neuromuscular disorders. We confirmed that WES/WGS, instead of panel approach, was more valuable to identify the genetic basis in patients with "possible" PMD and we provided a genetic testing flowchart to guide physicians in their diagnostic strategy. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

Author

Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Petrov, Yuliya, Khau Van Kien, Philippe, Le Boette, Elsa, Fradin, Mélanie, Alix-Panabières, Catherine, and Guissart, Claire

Published
2020
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9. UQCRC2-related mitochondrial complex III deficiency, about 7 patients

Author

Bansept, Claire, primary, Gaignard, Pauline, additional, Lebigot, Elise, additional, Eyer, Didier, additional, Delplancq, Geoffroy, additional, Hoebeke, Célia, additional, Mazodier, Karin, additional, Ledoyen, Anaïs, additional, Rouzier, Cécile, additional, Fragaki, Konstantina, additional, Ait-El-Mkadem Saadi, Samira, additional, Philippe, Christophe, additional, Bruel, Ange-Line, additional, Faivre, Laurence, additional, Feillet, François, additional, and Abi Warde, Marie-Thérèse, additional

Published
2023
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12. A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Author

Maamouri, Rym, Hizem, Syrine, Kammoun, Ines, Elaribi, Yasmina, Rejeb, Imen, Sebai, Molka, Jilani, Houweyda, Rouzier, Cécile, Cheour, Monia, Paquis-Flucklinger, Véronique, and Ben Jemaa, Lamia

Subjects
DIABETIC retinopathy, MEDICAL genetics, MEDICAL genomics, DIABETES insipidus, MISSENSE mutation, GENETIC counseling
Abstract

Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the WFS1 gene are the causative genetic anomaly for the syndrome, with, however, no evident genotype–phenotype correlation. Among the clinical features of the disease, diabetic retinopathy depicts a rarely reported microvascular complication. In this report, we describe the clinical and genetic findings in a 26-year-old patient presenting with Wolfram syndrome and severe diabetic retinopathy. The mutation screening was performed by polymerase chain reaction followed by Sanger sequencing of the entire coding sequence of the WFS1 gene. A novel homozygous missense variant c.1901A>T (p.Lys634Met) was found in the proband and classified as probably pathogenic according to the American College of Medical Genetics and Genomics. The molecular study of the WFS1 gene is essential for the diagnostic confirmation, to provide appropriate genetic counseling and a mutational screening in the at-risk relatives. The c.1901A>T (p.Lys634 Met) is a novel variant that could be responsible for a severe form of Wolfram syndrome with early and proliferative diabetic retinopathy. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2016
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16. Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2015
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17. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2015
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18. Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2015
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19. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2014
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20. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2014
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21. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2014
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25. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Author

Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David G., Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, and Paquis-Flucklinger, Véronique

Published
2014
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26. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion

Author

Rouzier, Cécile, Serre, Valérie, Chaussenot, Annabelle, Bannwarth, Sylvie, Chevrollier, Arnaud, Verschueren, Annie, Bonello-Palot, Nathalie, Fragaki, Konstantina, Cano, Aline, Pouget, Jean, Pellissier, Jean-François, Procaccio, Vincent, Munnich, Arnold, Chabrol, Brigitte, and Paquis-Flucklinger, Véronique

Published
2012
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29. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

Author

Zereg, Elamine, primary, Chaussenot, Annabelle, additional, Morel, Godelieve, additional, Bannwarth, Sylvie, additional, Sacconi, Sabrina, additional, Soriani, Marie‐Hélène, additional, Attarian, Shahram, additional, Cano, Aline, additional, Pouget, Jean, additional, Bellance, Rémi, additional, Tranchant, Christine, additional, Lannes, Béatrice, additional, Paula, André Maues, additional, Saadi Ait‐El‐Mkadem, Samira, additional, Chafino, Bernadette, additional, Berthet, Mathieu, additional, Fragaki, Konstantina, additional, Paquis‐Flucklinger, Véronique, additional, and Rouzier, Cécile, additional

Published
2020
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30. Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Author

Bordet, Céline, primary, Brice, Sandrine, additional, Maupain, Carole, additional, Gandjbakhch, Estelle, additional, Isidor, Bertrand, additional, Palmyre, Aurélien, additional, Moerman, Alexandre, additional, Toutain, Annick, additional, Akloul, Linda, additional, Brehin, Anne-Claire, additional, Sawka, Caroline, additional, Rooryck, Caroline, additional, Schaefer, Elise, additional, Nguyen, Karine, additional, Dupin Deguine, Delphine, additional, Rouzier, Cécile, additional, Billy, Gipsy, additional, Séné, Krystelle, additional, Denjoy, Isabelle, additional, Leheup, Bruno, additional, Planes, Marc, additional, Mazzella, Jean-Michael, additional, Staraci, Stéphanie, additional, Hebert, Mélanie, additional, Le Boette, Elsa, additional, Michon, Claire-Cécile, additional, Babonneau, Marie-Lise, additional, Curjol, Angélique, additional, Bekhechi, Amine, additional, Mansouri, Rafik, additional, Raji, Ibticem, additional, Pruny, Jean-François, additional, Fressart, Véronique, additional, Ader, Flavie, additional, Richard, Pascale, additional, Tezenas du Montcel, Sophie, additional, Gargiulo, Marcela, additional, and Charron, Philippe, additional

Published
2020
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33. A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

Author

Guissart, Claire, primary, Tran Mau Them, Frédéric, additional, Debant, Vanessa, additional, Viart, Victoria, additional, Dubucs, Charlotte, additional, Pritchard, Victoria, additional, Rouzier, Cécile, additional, Boureau-Wirth, Amandine, additional, Haquet, Emmanuelle, additional, Puechberty, Jacques, additional, Bieth, Eric, additional, Khau Van Kien, Philippe, additional, Brechard, Marie-Pierre, additional, Raynal, Caroline, additional, Girardet, Anne, additional, Claustres, Mireille, additional, Koenig, Michel, additional, and Vincent, Marie-Claire, additional

Published
2018
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35. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

Author

Rouzier, Cécile, primary, Moore, David, additional, Delorme, Cécile, additional, Lacas-Gervais, Sandra, additional, Ait-El-Mkadem, Samira, additional, Fragaki, Konstantina, additional, Burté, Florence, additional, Serre, Valérie, additional, Bannwarth, Sylvie, additional, Chaussenot, Annabelle, additional, Catala, Martin, additional, Yu-Wai-Man, Patrick, additional, and Paquis-Flucklinger, Véronique, additional

Published
2017
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36. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Author

Ait-El-Mkadem, Samira, primary, Dayem-Quere, Manal, additional, Gusic, Mirjana, additional, Chaussenot, Annabelle, additional, Bannwarth, Sylvie, additional, François, Bérengère, additional, Genin, Emmanuelle C., additional, Fragaki, Konstantina, additional, Volker-Touw, Catharina L.M., additional, Vasnier, Christelle, additional, Serre, Valérie, additional, van Gassen, Koen L.I., additional, Lespinasse, Françoise, additional, Richter, Susan, additional, Eisenhofer, Graeme, additional, Rouzier, Cécile, additional, Mochel, Fanny, additional, De Saint-Martin, Anne, additional, Abi Warde, Marie-Thérèse, additional, de Sain-van der Velde, Monique G.M., additional, Jans, Judith J.M., additional, Amiel, Jeanne, additional, Avsec, Ziga, additional, Mertes, Christian, additional, Haack, Tobias B., additional, Strom, Tim, additional, Meitinger, Thomas, additional, Bonnen, Penelope E., additional, Taylor, Robert W., additional, Gagneur, Julien, additional, van Hasselt, Peter M., additional, Rötig, Agnès, additional, Delahodde, Agnès, additional, Prokisch, Holger, additional, Fuchs, Sabine A., additional, and Paquis-Flucklinger, Véronique, additional

Published
2017
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37. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Author

Lerat, Justine, primary, Jonard, Laurence, additional, Loundon, Natalie, additional, Christin-Maitre, Sophie, additional, Lacombe, Didier, additional, Goizet, Cyril, additional, Rouzier, Cécile, additional, Van Maldergem, Lionel, additional, Gherbi, Souad, additional, Garabedian, Eréa-Nöel, additional, Bonnefont, Jean- Paul, additional, Touraine, Philippe, additional, Mosnier, Isabelle, additional, Munnich, Arnold, additional, Denoyelle, Françoise, additional, and Marlin, Sandrine, additional

Published
2016
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38. A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Author

Guissart, Claire, Tran Mau Them, Frédéric, Debant, Vanessa, Viart, Victoria, Dubucs, Charlotte, Pritchard, Victoria, Rouzier, Cécile, Boureau-Wirth, Amandine, Haquet, Emmanuelle, Puechberty, Jacques, Bieth, Eric, Khau Van Kien, Philippe, Brechard, Marie-Pierre, Raynal, Caroline, Girardet, Anne, Claustres, Mireille, Koenig, Michel, Vincent, Marie-Claire, Tran Mau Them, Frédéric, and Khau Van Kien, Philippe

Subjects
CYSTIC fibrosis, POLYMERASE chain reaction, PRENATAL diagnosis, GENETIC mutation, CYSTIC fibrosis transmembrane conductance regulator
Abstract

Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF).Methods: The test, based on haplotyping, includes nine intra- and extragenic short tandem repeats of the CFTR locus, the coamplification of p.Phe508del (the most frequent mutation in CF patients worldwide), and a specific SRY sequence. The assay is able to determine the inherited paternal allele.Results: Our simple approach was successfully applied to 30 couples and provided clear results from the maternal plasma. The mean rate of informative markers was sufficient to propose it for use in indirect diagnosis.Conclusions: This noninvasive prenatal diagnosis test, focused on indirect diagnosis of CF, offers many advantages over current methods: it is simple, rapid, and cost-effective. It allows for the testing of a large number of couples with high risk of CF, whatever the familial mutation of the CFTR gene. It provides an alternative method to reduce the number of invasive tests. [ABSTRACT FROM AUTHOR]

Published
2019
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40. Reply: High prevalence ofCHCHD10mutations in patients with frontotemporal dementia from China: Table 1

Author

Bannwarth, Sylvie, primary, Ait-El-Mkadem, Samira, additional, Chaussenot, Annabelle, additional, Genin, Emmanuelle C., additional, Lacas-Gervais, Sandra, additional, Fragaki, Konstantina, additional, Berg-Alonso, Laetitia, additional, Kageyama, Yusuke, additional, Serre, Valérie, additional, Moore, David, additional, Verschueren, Annie, additional, Rouzier, Cécile, additional, Le Ber, Isabelle, additional, Augé, Gaëlle, additional, Cochaud, Charlotte, additional, Lespinasse, Françoise, additional, N’Guyen, Karine, additional, de Septenville, Anne, additional, Brice, Alexis, additional, Yu-Wai-Man, Patrick, additional, Sesaki, Hiromi, additional, Pouget, Jean, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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41. NDUFS6related Leigh syndrome: a case report and review of the literature

Author

Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, and Bannwarth, Sylvie

Abstract

The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype–phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only a few patients were reported with proven NDUFS6pathogenic variants and all presented with severe neonatal lactic acidemia and complex I deficiency, leading to death in the first days of life. Here, we present a patient harboring two NDUFS6variants with a phenotype compatible with Leigh syndrome. Although most of previous reports suggested that NDUFS6pathogenic variants invariably lead to early neonatal death, this report shows that the clinical spectrum could be larger. We found a severe decrease of NDUFS6 protein level in patient’s fibroblasts associated with a complex I assembly defect in patient’s muscle and fibroblasts. These data confirm the importance of NDUFS6 and the Zn-finger domain for a correct assembly of complex I.

Published
2019
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42. CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

Author

Morel, Godelieve, primary, Rouzier, Cécile, additional, Chaussenot, Annabelle, additional, Ait-El-Mkadem, Samira, additional, Bannwarth, Sylvie, additional, Genin, Emmanuelle C., additional, Augé, Gaëlle, additional, Chabrol, Brigitte, additional, Pouget, Jean, additional, Soriani, Marie Hélène, additional, Sacconi, Sabrina, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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43. Reply: IsCHCHD10Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Author

Bannwarth, Sylvie, primary, Ait-El-Mkadem, Samira, additional, Chaussenot, Annabelle, additional, Genin, Emmanuelle C., additional, Lacas-Gervais, Sandra, additional, Fragaki, Konstantina, additional, Berg-Alonso, Laetitia, additional, Kageyama, Yusuke, additional, Serre, Valérie, additional, Moore, David, additional, Verschueren, Annie, additional, Rouzier, Cécile, additional, Le Ber, Isabelle, additional, Augé, Gaëlle, additional, Cochaud, Charlotte, additional, Lespinasse, Françoise, additional, N’Guyen, Karine, additional, de Septenville, Anne, additional, Brice, Alexis, additional, Yu-Wai-Man, Patrick, additional, Sesaki, Hiromi, additional, Pouget, Jean, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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44. Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324.

Author

Plutino, Morgane, primary, Chaussenot, Annabelle, additional, Ait-El-Mkadem, Samira, additional, Bannwarth, Sylvie, additional, Genin, Emmanuelle C., additional, Rouzier, Cécile, additional, Augé, Gaëlle, additional, Sacconi, Sabrina, additional, Pouget, Jean, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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45. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation: Table 1

Author

Bannwarth, Sylvie, primary, Ait-El-Mkadem, Samira, additional, Chaussenot, Annabelle, additional, Genin, Emmanuelle C., additional, Lacas-Gervais, Sandra, additional, Fragaki, Konstantina, additional, Berg-Alonso, Laetitia, additional, Kageyama, Yusuke, additional, Serre, Valérie, additional, Moore, David, additional, Verschueren, Annie, additional, Rouzier, Cécile, additional, Le Ber, Isabelle, additional, Augé, Gaëlle, additional, Cochaud, Charlotte, additional, Lespinasse, Françoise, additional, N’Guyen, Karine, additional, de Septenville, Anne, additional, Brice, Alexis, additional, Yu-Wai-Man, Patrick, additional, Sesaki, Hiromi, additional, Pouget, Jean, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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46. Reply:CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Author

Bannwarth, Sylvie, primary, Ait-El-Mkadem, Samira, additional, Chaussenot, Annabelle, additional, Genin, Emmanuelle C., additional, Lacas-Gervais, Sandra, additional, Fragaki, Konstantina, additional, Berg-Alonso, Laetitia, additional, Kageyama, Yusuke, additional, Serre, Valérie, additional, Moore, David, additional, Verschueren, Annie, additional, Rouzier, Cécile, additional, Le Ber, Isabelle, additional, Augé, Gaëlle, additional, Cochaud, Charlotte, additional, Lespinasse, Françoise, additional, N’Guyen, Karine, additional, de Septenville, Anne, additional, Brice, Alexis, additional, Yu-Wai-Man, Patrick, additional, Sesaki, Hiromi, additional, Pouget, Jean, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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49. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Author

Rouzier, Cécile, primary, Chaussenot, Annabelle, additional, Serre, Valérie, additional, Fragaki, Konstantina, additional, Bannwarth, Sylvie, additional, Ait-El-Mkadem, Samira, additional, Attarian, Shahram, additional, Kaphan, Elsa, additional, Cano, Aline, additional, Delmont, Emilien, additional, Sacconi, Sabrina, additional, de Camaret, Bénédicte Mousson, additional, Rio, Marlène, additional, Lebre, Anne-Sophie, additional, Jardel, Claude, additional, Deschamps, Romain, additional, Richelme, Christian, additional, Pouget, Jean, additional, Chabrol, Brigitte, additional, and Paquis-Flucklinger, Véronique, additional

Published
2013
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50. Coenzyme Q10defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

Author

Fragaki, Konstantina, Chaussenot, Annabelle, Benoist, Jean-François, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Rouzier, Cécile, Cochaud, Charlotte, and Paquis-Flucklinger, Véronique

Abstract

Coenzyme Q10(CoQ10or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10biosynthesis pathway, or to mutations in genes unrelated to CoQ10biosynthesis. CoQ10defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC) spectrophotometric analysis, then confirmed by direct measurement of CoQ10levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III) while MRC activities of complexes I, II, III, IV and V are normal. We previously suggested that CoQ10defect may be associated with a deficiency of CoQ10-independent MRC complexes. The aim of this study was to verify this hypothesis in order to improve the diagnosis of this disease. To determine whether CoQ10defect could be associated with MRC deficiency, we quantified CoQ10by LC-MSMS in a cohort of 18 patients presenting CoQ10-dependent deficiency associated with MRC defect. We found decreased levels of CoQ10in eight patients out of 18 (45 %), thus confirming CoQ10disease. Our study shows that CoQ10defect can be associated with MRC deficiency. This could be of major importance in clinical practice for the diagnosis of a disease that can be improved by CoQ10supplementation.

Published
2016
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