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111 results on '"Rötig, Agnes"'

1. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Author

Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, and Wortmann, Saskia

Published
2023
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2. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

Author

Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, and Marlin, Sandrine

Published
2020
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4. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Author

Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, and De Sandre-Giovannoli, Annachiara

Published
2020
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5. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Author

Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, and De Sandre-Giovannoli, Annachiara

Published
2020
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8. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

Author

Wortmann, Saskia B., Timal, Sharita, Venselaar, Hanka, Wintjes, Liesbeth T., Kopajtich, Robert, Feichtinger, René G., Onnekink, Carla, Mühlmeister, Mareike, Brandt, Ulrich, Smeitink, Jan A., Veltman, Joris A., Sperl, Wolfgang, Lefeber, Dirk, Pruijn, Ger, Stojanovic, Vesna, Freisinger, Peter, v Spronsen, Francjan, Derks, Terry GJ, Veenstra‐Knol, Hermine E., Mayr, Johannes A, Rötig, Agnes, Tarnopolsky, Mark, Prokisch, Holger, and Rodenburg, Richard J.

Published
2017
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9. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Published
2018
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12. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Author

Schiff, Manuel, Haberberger, Birgit, Xia, Chuanwu, Mohsen, Al-Walid, Goetzman, Eric S., Wang, Yudong, Uppala, Radha, Zhang, Yuxun, Karunanidhi, Anuradha, Prabhu, Dolly, Alharbi, Hana, Prochownik, Edward V., Haack, Tobias, Häberle, Johannes, Munnich, Arnold, Rötig, Agnes, Taylor, Robert W., Nicholls, Robert D., Kim, Jung-Ja, Prokisch, Holger, and Vockley, Jerry

Published
2015
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15. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (Nature Communications, (2020), 11, 1, (4589), 10.1038/s41467-020-18146-9)

Author

Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, H. lya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, de Sandre-Giovannoli, Annachiara, and ACS - Heart failure & arrhythmias

Abstract

The original version of this Article contained errors in the author affiliations. The affiliations of Nathalie Escande-Beillard and Bruno Reversade with ‘Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey’ were inadvertently omitted. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2020

16. 258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Author

Bertini, Enrico, Cohen, Bruce H., Rahman, Shamima, Schiff, Manuel, Ardissone, Anna, Christodoulou, John, Falk, Marni, Goldstein, Amy, Haas, Richard, Horvath, Rita, McFarland, Robert, Murayama, Kei, Osaka, Hitoshi, Prigione, Alessandro, Prokisch, Holger, Rötig, Agnès, Schuelke, Markus, Suomalainen-Waartiovara, Anu, Thorburn, David, Zeman, Jiri, Zolkipli-Cunningham, Zarazuela, Diodato, Daria, Pällijeff, Pieti, Pennisi, Alessandra, Klein, Matthew, Maguire, Alison, Waller, Katie, Amanda, Wylie, Faye, and Yeske, Philip

Published
2023
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20. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Author

Haack, Tobias B, Madignier, Florence, Herzer, Martina, Lamantea, Eleonora, Danhauser, Katharina, Invernizzi, Federica, Koch, Johannes, Freitag, Martin, Drost, Rene, Hillier, Ingo, Haberberger, Birgit, Mayr, Johannes A, Ahting, Uwe, Tiranti, Valeria, Rötig, Agnes, Iuso, Arcangela, Horvath, Rita, Tesarova, Marketa, Baric, Ivo, Uziel, Graziella, Rolinski, Boris, Sperl, Wolfgang, Meitinger, Thomas, Zeviani, Massimo, Freisinger, Peter, and Prokisch, Holger

Published
2012
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22. Liste des collaborateurs

Author

Arveiler, Benoît, Auger, Nathalie, Bartoli, Marc, Becquemont, Laurent, Béroud, Christophe, Bézieau, Stéphane, Biancalana, Valérie, Bilhou-Nabéra, Chrystèle, Blanc, Pierre, Bonneau, Dominique, Brice, Alexis, Chabannon, Christian, Colas, Chrystelle, Corcuff, Mélanie, Cormier-Daire, Valérie, Coutton, Charles, Denommé-Pichon, Anne-Sophie, Doco-Fenzy, Martine, Dollfus, Hélène, Edery, Patrick, Feingold, Josué, Férec, Claude, Frébourg, Thierry, de Fréminville, Bénédicte, Geneviève, David, Goizet, Cyril, Grattepanche, Coralie, Guien, Céline, Heinzmann, Anna, Héron, Delphine, Houdayer, Claude, Huet, Frédéric, Kannengiesser, Caroline, Krahn, Martin, Labarthe, François, Lacombe, Didier, Lèbre, Anne-Sophie, Le Caignec, Cédric, Leheup, Bruno, Lesca, Gaëtan, Lévy, Nicolas, Loriot, Marie-Anne, Lyonnet, Stanislas, Malan, Valérie, Malzac, Perrine, Mandel, Jean-Louis, Marlin, Sandrine, Mattei, Jean-François, Ménoret, Estelle, Muller, Jean, Munnich, Arnold, Nguyen, Karine, Nicolas, Gaël, Odent, Sylvie, Pacot, Laurence, Paquis-Flucklinger, Véronique, Parfait, Béatrice, Pasmant, Eric, Pasquier, Laurent, Petit, Florence, Philip, Nicole, Plutino, Morgane, Putoux, Audrey, Ramond, Francis, Romana, Serge, Rooryck-Thambo, Caroline, Rötig, Agnès, Roussey, Michel, Salgado, David, Sanlaville, Damien, Saugier-Veber, Pascale, Schluth-Bolard, Caroline, Siffroi, Jean-Pierre, Stoppa-Lyonnet, Dominique, Thauvin, Christel, Touraine, Renaud, Troadec, Marie-Bérengère, Verloes, Alain, Vidaud, Dominique, and Vidaud, Michel

Published
2022
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26. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Author

Lake, Nicole J., primary, Webb, Bryn D., additional, Stroud, David A., additional, Richman, Tara R., additional, Ruzzenente, Benedetta, additional, Compton, Alison G., additional, Mountford, Hayley S., additional, Pulman, Juliette, additional, Zangarelli, Coralie, additional, Rio, Marlene, additional, Boddaert, Nathalie, additional, Assouline, Zahra, additional, Sherpa, Mingma D., additional, Schadt, Eric E., additional, Houten, Sander M., additional, Byrnes, James, additional, McCormick, Elizabeth M., additional, Zolkipli-Cunningham, Zarazuela, additional, Haude, Katrina, additional, Zhang, Zhancheng, additional, Retterer, Kyle, additional, Bai, Renkui, additional, Calvo, Sarah E., additional, Mootha, Vamsi K., additional, Christodoulou, John, additional, Rötig, Agnes, additional, Filipovska, Aleksandra, additional, Cristian, Ingrid, additional, Falk, Marni J., additional, Metodiev, Metodi D., additional, and Thorburn, David R., additional

Published
2018
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27. Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

Author

Wortmann, Saskia B., primary, Timal, Sharita, additional, Venselaar, Hanka, additional, Wintjes, Liesbeth T., additional, Kopajtich, Robert, additional, Feichtinger, René G., additional, Onnekink, Carla, additional, Mühlmeister, Mareike, additional, Brandt, Ulrich, additional, Smeitink, Jan A., additional, Veltman, Joris A., additional, Sperl, Wolfgang, additional, Lefeber, Dirk, additional, Pruijn, Ger, additional, Stojanovic, Vesna, additional, Freisinger, Peter, additional, v Spronsen, Francjan, additional, Derks, Terry GJ, additional, Veenstra-Knol, Hermine E., additional, Mayr, Johannes A, additional, Rötig, Agnes, additional, Tarnopolsky, Mark, additional, Prokisch, Holger, additional, and Rodenburg, Richard J., additional

Published
2017
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31. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Author

Lake, Nicole J., primary, Webb, Bryn D., additional, Stroud, David A., additional, Richman, Tara R., additional, Ruzzenente, Benedetta, additional, Compton, Alison G., additional, Mountford, Hayley S., additional, Pulman, Juliette, additional, Zangarelli, Coralie, additional, Rio, Marlene, additional, Boddaert, Nathalie, additional, Assouline, Zahra, additional, Sherpa, Mingma D., additional, Schadt, Eric E., additional, Houten, Sander M., additional, Byrnes, James, additional, McCormick, Elizabeth M., additional, Zolkipli-Cunningham, Zarazuela, additional, Haude, Katrina, additional, Zhang, Zhancheng, additional, Retterer, Kyle, additional, Bai, Renkui, additional, Calvo, Sarah E., additional, Mootha, Vamsi K., additional, Christodoulou, John, additional, Rötig, Agnes, additional, Filipovska, Aleksandra, additional, Cristian, Ingrid, additional, Falk, Marni J., additional, Metodiev, Metodi D., additional, and Thorburn, David R., additional

Published
2017
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32. Genetic diagnosis of Mendelian disorders via RNA sequencing

Author

Kremer, Laura S., primary, Bader, Daniel M., additional, Mertes, Christian, additional, Kopajtich, Robert, additional, Pichler, Garwin, additional, Iuso, Arcangela, additional, Haack, Tobias B., additional, Graf, Elisabeth, additional, Schwarzmayr, Thomas, additional, Terrile, Caterina, additional, Koňaříková, Eliška, additional, Repp, Birgit, additional, Kastenmüller, Gabi, additional, Adamski, Jerzy, additional, Lichtner, Peter, additional, Leonhardt, Christoph, additional, Funalot, Benoit, additional, Donati, Alice, additional, Tiranti, Valeria, additional, Lombes, Anne, additional, Jardel, Claude, additional, Gläser, Dieter, additional, Taylor, Robert W., additional, Ghezzi, Daniele, additional, Mayr, Johannes A., additional, Rötig, Agnes, additional, Freisinger, Peter, additional, Distelmaier, Felix, additional, Strom, Tim M., additional, Meitinger, Thomas, additional, Gagneur, Julien, additional, and Prokisch, Holger, additional

Published
2017
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33. Genetic diagnosis of Mendelian disorders via RNA sequencing

Author

Kremer, Laura S, primary, Bader, Daniel M, additional, Mertes, Christian, additional, Kopajtich, Robert, additional, Pichler, Garwin, additional, Iuso, Arcangela, additional, Haack, Tobias B, additional, Graf, Elisabeth, additional, Schwarzmayr, Thomas, additional, Terrile, Caterina, additional, Koňařiková, Eliška, additional, Repp, Birgit, additional, Kastenmüller, Gabi, additional, Adamski, Jerzy, additional, Lichtner, Peter, additional, Leonhardt, Christoph, additional, Funalot, Benoit, additional, Donati, Alice, additional, Tiranti, Valeria, additional, Lombes, Anne, additional, Jardel, Claude, additional, Gläser, Dieter, additional, Taylor, Robert W., additional, Ghezzi, Daniele, additional, Mayr, Johannes A, additional, Rötig, Agnes, additional, Freisinger, Peter, additional, Distelmaier, Felix, additional, Strom, Tim M, additional, Meitinger, Thomas, additional, Gagneur, Julien, additional, and Prokisch, Holger, additional

Published
2016
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36. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes includingNDUFB9

Author

Haack, Tobias B, primary, Madignier, Florence, additional, Herzer, Martina, additional, Lamantea, Eleonora, additional, Danhauser, Katharina, additional, Invernizzi, Federica, additional, Koch, Johannes, additional, Freitag, Martin, additional, Drost, Rene, additional, Hillier, Ingo, additional, Haberberger, Birgit, additional, Mayr, Johannes A, additional, Ahting, Uwe, additional, Tiranti, Valeria, additional, Rötig, Agnes, additional, Iuso, Arcangela, additional, Horvath, Rita, additional, Tesarova, Marketa, additional, Baric, Ivo, additional, Uziel, Graziella, additional, Rolinski, Boris, additional, Sperl, Wolfgang, additional, Meitinger, Thomas, additional, Zeviani, Massimo, additional, Freisinger, Peter, additional, and Prokisch, Holger, additional

Published
2011
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37. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Author

Zeharia, Avraham, primary, Shaag, Avraham, additional, Pappo, Orit, additional, Mager-Heckel, Anne-Marie, additional, Saada, Ann, additional, Beinat, Marine, additional, Karicheva, Olga, additional, Mandel, Hanna, additional, Ofek, Noa, additional, Segel, Reeval, additional, Marom, Daphna, additional, Rötig, Agnes, additional, Tarassov, Ivan, additional, and Elpeleg, Orly, additional

Published
2010
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38. Pearson Syndrome in the Neonatal Period

Author

Manea, Elena Maria, primary, Leverger, Guy, additional, Bellmann, Francoise, additional, Stanescu, Popp Alina, additional, Mircea, Adam, additional, Lèbre, Anne-Sophie, additional, Rötig, Agnes, additional, and Munnich, Arnold, additional

Published
2009
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39. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Author

Zeharia, Avraham, primary, Shaag, Avraham, additional, Pappo, Orit, additional, Mager-Heckel, Anne-Marie, additional, Saada, Ann, additional, Beinat, Marine, additional, Karicheva, Olga, additional, Mandel, Hanna, additional, Ofek, Noa, additional, Segel, Reeval, additional, Marom, Daphna, additional, Rötig, Agnes, additional, Tarassov, Ivan, additional, and Elpeleg, Orly, additional

Published
2009
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41. Erratum: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Author

Naïmi, Mourad, primary, Bannwarth, Sylvie, additional, Procaccio, Vincent, additional, Pouget, Jean, additional, Desnuelle, Claude, additional, Pellissier, Jean-François, additional, Rötig, Agnes, additional, Munnich, Arnold, additional, Calvas, Patrick, additional, Richelme, Christian, additional, Jonveaux, Philippe, additional, Castelnovo, Giovanni, additional, Simon, Mariella, additional, Clanet, Michel, additional, Wallace, Douglas, additional, and Paquis-Flucklinger, Véronique, additional

Published
2007
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42. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Author

Naïmi, Mourad, primary, Bannwarth, Sylvie, additional, Procaccio, Vincent, additional, Pouget, Jean, additional, Desnuelle, Claude, additional, Pellissier, Jean-François, additional, Rötig, Agnes, additional, Munnich, Arnold, additional, Calvas, Patrick, additional, Richelme, Christian, additional, Jonveaux, Philippe, additional, Castelnovo, Giovanni, additional, Simon, Melvin, additional, Clanet, Michel, additional, Wallace, Douglas, additional, and Paquis-Flucklinger, Véronique, additional

Published
2006
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43. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Author

Spinazzola, Antonella, primary, Viscomi, Carlo, additional, Fernandez-Vizarra, Erika, additional, Carrara, Franco, additional, D'Adamo, Pio, additional, Calvo, Sarah, additional, Marsano, René Massimiliano, additional, Donnini, Claudia, additional, Weiher, Hans, additional, Strisciuglio, Pietro, additional, Parini, Rossella, additional, Sarzi, Emmanuelle, additional, Chan, Alicia, additional, DiMauro, Salvatore, additional, Rötig, Agnes, additional, Gasparini, Paolo, additional, Ferrero, Iliana, additional, Mootha, Vamsi K, additional, Tiranti, Valeria, additional, and Zeviani, Massimo, additional

Published
2006
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50. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Author

Haghighi, Alireza, Haack, Tobias B, Atiq, Mehnaz, Mottaghi, Hassan, Haghighi-Kakhki, Hamidreza, Bashir, Rani A, Ahting, Uwe, Feichtinger, René G, Mayr, Johannes A, Rötig, Agnès, Lebre, Anne-Sophie, Klopstock, Thomas, Dworschak, Andrea, Pulido, Nathan, Saeed, Mahmood A, Saleh-Gohari, Nasrollah, Holzerova, Eliska, Chinnery, Patrick F, Taylor, Robert W, and Prokisch, Holger

Subjects
Sengers syndrome, AGK, Acylglycerol Kinase, Mutation, Genotype-Phenotype Correlation
Abstract

Background: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families. Methods: We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form. Results: Sequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected individuals. A total of eight different disease alleles were identified, of which six were novel, homozygous c.523_524delAT (p.Ile175Tyrfs*2), c.424-1G > A (splice site), c.409C > T (p.Arg137*) and c.877 + 3G > T (splice site), and compound heterozygous c.871C > T (p.Gln291*) and c.1035dup (p.Ile346Tyrfs*39). All patients displayed perinatal or early-onset cardiomyopathy and cataract, clinical features pathognomonic for Sengers syndrome. Other common findings included blood lactic acidosis and tachydyspnoea while nystagmus, eosinophilia and cervical meningocele were documented in only either one or two cases. Deficiency of the adenine nucleotide translocator was found in heart and skeletal muscle biopsies from two patients associated with respiratory chain complex I deficiency. In contrast to previous findings, mitochondrial DNA content was normal in both tissues. Conclusion: We compare our findings to those in 21 previously reported AGK mutation-positive Sengers patients, confirming that Sengers syndrome is a clinically recognisable disorder of mitochondrial energy metabolism.

Published
2014
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