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1. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Author

Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, and Straub, Volker

Published
2024
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2. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Author

Marchant, Rhett G., primary, Bryen, Samantha J., additional, Bahlo, Melanie, additional, Cairns, Anita, additional, Chao, Katherine R., additional, Corbett, Alastair, additional, Davis, Mark R., additional, Ganesh, Vijay S., additional, Ghaoui, Roula, additional, Jones, Kristi J., additional, Kornberg, Andrew J., additional, Lek, Monkol, additional, Liang, Christina, additional, MacArthur, Daniel G., additional, Oates, Emily C., additional, O'Donnell‐Luria, Anne, additional, O'Grady, Gina L., additional, Osei‐Owusu, Ikeoluwa A., additional, Rafehi, Haloom, additional, Reddel, Stephen W., additional, Roxburgh, Richard H., additional, Ryan, Monique M., additional, Sandaradura, Sarah A., additional, Scott, Liam W., additional, Valkanas, Elise, additional, Weisburd, Ben, additional, Young, Helen, additional, Evesson, Frances J., additional, Waddell, Leigh B., additional, and Cooper, Sandra T., additional

Published
2024
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3. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Author

Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko

Published
2021
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5. Genotype–phenotype correlations in recessive titinopathies

Author

Savarese, Marco, Vihola, Anna, Oates, Emily C., Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J., Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, and Udd, Bjarne

Published
2020
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6. DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies

Author

Johnson, Renee, primary, Otway, Robyn, additional, Chin, Ephrem, additional, Horvat, Claire, additional, Ohanian, Monique, additional, Wilcox, Jon A.L., additional, Su, Zheng, additional, Prestes, Priscilla, additional, Smolnikov, Andrei, additional, Soka, Magdalena, additional, Guo, Guanglan, additional, Rath, Emma, additional, Chakravorty, Samya, additional, Chrzanowski, Lukasz, additional, Hayward, Christopher S., additional, Keogh, Anne M., additional, Macdonald, Peter S., additional, Giannoulatou, Eleni, additional, Chang, Alex C.Y., additional, Oates, Emily C., additional, Charchar, Fadi, additional, Seidman, Jonathan G., additional, Seidman, Christine E., additional, Hegde, Madhuri, additional, and Fatkin, Diane, additional

Published
2023
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7. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Author

Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, and Muntoni, Francesco

Published
2016
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8. Reply: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy

Author

Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzales, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., and North, Kathryn N.

Published
2015
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9. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Author

Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzalez, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., and North, Kathryn N.

Published
2015
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12. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

Author

Waddell, Leigh B., primary, Bryen, Samantha J., additional, Cummings, Beryl B., additional, Bournazos, Adam, additional, Evesson, Frances J., additional, Joshi, Himanshu, additional, Marshall, Jamie L., additional, Tukiainen, Taru, additional, Valkanas, Elise, additional, Weisburd, Ben, additional, Sadedin, Simon, additional, Davis, Mark R., additional, Faiz, Fathimath, additional, Gooding, Rebecca, additional, Sandaradura, Sarah A., additional, O'Grady, Gina L., additional, Tchan, Michel C., additional, Mowat, David R., additional, Oates, Emily C., additional, Farrar, Michelle A., additional, Sampaio, Hugo, additional, Ma, Alan, additional, Neas, Katherine, additional, Wang, Min-Xia, additional, Charlton, Amanda, additional, Chan, Charles, additional, Kenwright, Diane N., additional, Graf, Nicole, additional, Arbuckle, Susan, additional, Clarke, Nigel F., additional, MacArthur, Daniel G., additional, Jones, Kristi J., additional, Lek, Monkol, additional, and Cooper, Sandra T., additional

Published
2021
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13. Making sense of missense variants in TTN-related congenital myopathies

Author

Rees, Martin, primary, Nikoopour, Roksana, additional, Fukuzawa, Atsushi, additional, Kho, Ay Lin, additional, Fernandez-Garcia, Miguel A., additional, Wraige, Elizabeth, additional, Bodi, Istvan, additional, Deshpande, Charu, additional, Özdemir, Özkan, additional, Daimagüler, Hülya-Sevcan, additional, Pfuhl, Mark, additional, Holt, Mark, additional, Brandmeier, Birgit, additional, Grover, Sarah, additional, Fluss, Joël, additional, Longman, Cheryl, additional, Farrugia, Maria Elena, additional, Matthews, Emma, additional, Hanna, Michael, additional, Muntoni, Francesco, additional, Sarkozy, Anna, additional, Phadke, Rahul, additional, Quinlivan, Ros, additional, Oates, Emily C., additional, Schröder, Rolf, additional, Thiel, Christian, additional, Reimann, Jens, additional, Voermans, Nicol, additional, Erasmus, Corrie, additional, Kamsteeg, Erik-Jan, additional, Konersman, Chaminda, additional, Grosmann, Carla, additional, McKee, Shane, additional, Tirupathi, Sandya, additional, Moore, Steven A., additional, Wilichowski, Ekkehard, additional, Hobbiebrunken, Elke, additional, Dekomien, Gabriele, additional, Richard, Isabelle, additional, Van den Bergh, Peter, additional, Domínguez-González, Cristina, additional, Cirak, Sebahattin, additional, Ferreiro, Ana, additional, Jungbluth, Heinz, additional, and Gautel, Mathias, additional

Published
2021
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16. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Author

Bryen, Samantha J., primary, Oates, Emily C., additional, Evesson, Frances J., additional, Lu, Jessica K., additional, Waddell, Leigh B., additional, Joshi, Himanshu, additional, Ryan, Monique M., additional, Cummings, Beryl B., additional, McLean, Catriona A., additional, MacArthur, Daniel G., additional, Kornberg, Andrew J., additional, and Cooper, Sandra T., additional

Published
2020
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17. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Author

Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha-Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., and Laing, Nigel G.

Subjects
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Abstract

Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access) OBJECTIVE: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients. RESULTS: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder. INTERPRETATION: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124.

Published
2018

18. Recessive MYH7-related myopathy in two families

Author

Beecroft, Sarah J., primary, van de Locht, Martijn, additional, de Winter, Josine M., additional, Ottenheijm, Coen A., additional, Sewry, Caroline A., additional, Mohammed, Shehla, additional, Ryan, Monique M., additional, Woodcock, Ian R., additional, Sanders, Lauren, additional, Gooding, Rebecca, additional, Davis, Mark R., additional, Oates, Emily C., additional, Laing, Nigel G., additional, Ravenscroft, Gianina, additional, McLean, Catriona A., additional, and Jungbluth, Heinz, additional

Published
2019
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19. Pathogenic deep intronic MTM1variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Author

Bryen, Samantha J., Oates, Emily C., Evesson, Frances J., Lu, Jessica K., Waddell, Leigh B., Joshi, Himanshu, Ryan, Monique M., Cummings, Beryl B., McLean, Catriona A., MacArthur, Daniel G., Kornberg, Andrew J., and Cooper, Sandra T.

Abstract

X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy characterised by generalised weakness and respiratory insufficiency. XLMTM is associated with pathogenic variants in MTM1; a gene encoding the lipid phosphatase myotubularin. Whole genome sequencing (WGS) of an exome-negative male proband with severe hypotonia, respiratory insufficiency and centralised nuclei on muscle biopsy identified a deep intronic MTM1variant NG_008199.1(NM_000252.2):c.1468-577A>G, which strengthened a cryptic 5' splice site (A>G substitution at the +5 position). Muscle RNA sequencing was non-diagnostic due to low read depth. Reverse transcription PCR (RT-PCR) of muscle RNA confirmed the c.1468-577A>G variant activates inclusion of a pseudo-exon encoding a premature stop codon into all detected MTM1transcripts. Western blot analysis establishes deficiency of myotubularin protein, consistent with the severe XLMTM phenotype. We expand the genotypic spectrum of XLMTM and highlight benefits of screening non-coding regions of MTM1in male probands with phenotypically concordant XLMTM who remain undiagnosed following exome sequencing.

Published
2021
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20. Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

Author

Punetha, Jaya, primary, Kesari, Akanchha, additional, Uapinyoying, Prech, additional, Giri, Mamta, additional, Clarke, Nigel F., additional, Waddell, Leigh B., additional, North, Kathryn N., additional, Ghaoui, Roula, additional, O’Grady, Gina L., additional, Oates, Emily C., additional, Sandaradura, Sarah A., additional, Bönnemann, Carsten G., additional, Donkervoort, Sandra, additional, Plotz, Paul H., additional, Smith, Edward C., additional, Tesi-Rocha, Carolina, additional, Bertorini, Tulio E., additional, Tarnopolsky, Mark A., additional, Reitter, Bernd, additional, Hausmanowa-Petrusewicz, Irena, additional, and Hoffman, Eric P., additional

Published
2016
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21. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

Author

O'Grady, Gina L., primary, Lek, Monkol, additional, Lamande, Shireen R., additional, Waddell, Leigh, additional, Oates, Emily C., additional, Punetha, Jaya, additional, Ghaoui, Roula, additional, Sandaradura, Sarah A., additional, Best, Heather, additional, Kaur, Simranpreet, additional, Davis, Mark, additional, Laing, Nigel G., additional, Muntoni, Francesco, additional, Hoffman, Eric, additional, MacArthur, Daniel G., additional, Clarke, Nigel F., additional, Cooper, Sandra, additional, and North, Kathryn, additional

Published
2016
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22. Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

Author

Zaharieva, Irina T., primary, Thor, Michael G., additional, Oates, Emily C., additional, van Karnebeek, Clara, additional, Hendson, Glenda, additional, Blom, Eveline, additional, Witting, Nanna, additional, Rasmussen, Magnhild, additional, Gabbett, Michael T., additional, Ravenscroft, Gianina, additional, Sframeli, Maria, additional, Suetterlin, Karen, additional, Sarkozy, Anna, additional, D’Argenzio, Luigi, additional, Hartley, Louise, additional, Matthews, Emma, additional, Pitt, Matthew, additional, Vissing, John, additional, Ballegaard, Martin, additional, Krarup, Christian, additional, Slørdahl, Andreas, additional, Halvorsen, Hanne, additional, Ye, Xin Cynthia, additional, Zhang, Lin-Hua, additional, Løkken, Nicoline, additional, Werlauff, Ulla, additional, Abdelsayed, Mena, additional, Davis, Mark R., additional, Feng, Lucy, additional, Phadke, Rahul, additional, Sewry, Caroline A., additional, Morgan, Jennifer E., additional, Laing, Nigel G., additional, Vallance, Hilary, additional, Ruben, Peter, additional, Hanna, Michael G., additional, Lewis, Suzanne, additional, Kamsteeg, Erik-Jan, additional, Männikkö, Roope, additional, and Muntoni, Francesco, additional

Published
2015
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23. Reply: The p.Ser107Leu inBICD2is a mutation ‘hot spot’ causing distal spinal muscular atrophy

Author

Rossor, Alexander M., primary, Oates, Emily C., additional, Salter, Hannah K., additional, Liu, Yang, additional, Murphy, Sinead M., additional, Schule, Rebecca, additional, Gonzales, Michael A., additional, Scoto, Mariacristina, additional, Phadke, Rahul, additional, Sewry, Caroline A., additional, Houlden, Henry, additional, Jordanova, Albena, additional, Tournev, Iyailo, additional, Chamova, Teodora, additional, Litvinenko, Ivan, additional, Zuchner, Stephan, additional, Herrmann, David N., additional, Blake, Julian, additional, Sowden, Janet E., additional, Acsadi, Gyuda, additional, Rodriguez, Michael L., additional, Menezes, Manoj P., additional, Clarke, Nigel F., additional, Auer Grumbach, Michaela, additional, Bullock, Simon L., additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, and North, Kathryn N., additional

Published
2015
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24. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Author

Rossor, Alexander M., primary, Oates, Emily C., additional, Salter, Hannah K., additional, Liu, Yang, additional, Murphy, Sinead M., additional, Schule, Rebecca, additional, Gonzalez, Michael A., additional, Scoto, Mariacristina, additional, Phadke, Rahul, additional, Sewry, Caroline A., additional, Houlden, Henry, additional, Jordanova, Albena, additional, Tournev, Iyailo, additional, Chamova, Teodora, additional, Litvinenko, Ivan, additional, Zuchner, Stephan, additional, Herrmann, David N., additional, Blake, Julian, additional, Sowden, Janet E., additional, Acsadi, Gyuda, additional, Rodriguez, Michael L., additional, Menezes, Manoj P., additional, Clarke, Nigel F., additional, Auer Grumbach, Michaela, additional, Bullock, Simon L., additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, and North, Kathryn N., additional

Published
2014
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25. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Author

O'Grady, Gina L, primary, Best, Heather A, additional, Oates, Emily C, additional, Kaur, Simranpreet, additional, Charlton, Amanda, additional, Brammah, Susan, additional, Punetha, Jaya, additional, Kesari, Akanchha, additional, North, Kathryn N, additional, Ilkovski, Biljana, additional, Hoffman, Eric P, additional, and Clarke, Nigel F, additional

Published
2014
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27. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Author

Oates, Emily C., primary, Rossor, Alexander M., additional, Hafezparast, Majid, additional, Gonzalez, Michael, additional, Speziani, Fiorella, additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Cottenie, Ellen, additional, Scoto, Mariacristina, additional, Foley, A. Reghan, additional, Hurles, Matthew, additional, Houlden, Henry, additional, Greensmith, Linda, additional, Auer-Grumbach, Michaela, additional, Pieber, Thomas R., additional, Strom, Tim M., additional, Schule, Rebecca, additional, Herrmann, David N., additional, Sowden, Janet E., additional, Acsadi, Gyula, additional, Menezes, Manoj P., additional, Clarke, Nigel F., additional, Züchner, Stephan, additional, Muntoni, Francesco, additional, North, Kathryn N., additional, and Reilly, Mary M., additional

Published
2013
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28. The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Author

Bansagi, Boglarka, Griffin, Helen, Ramesh, Venkateswaran, Duff, Jennifer, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita, Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Yang Liu, Murphy, Sinead M., Schule, Rebecca, Gonzales, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, and Tournev, Iyailo

Subjects
NERVE tissue proteins, SPINAL muscular atrophy
Published
2015
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29. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Author

O'Grady, Gina L, Best, Heather A, Oates, Emily C, Kaur, Simranpreet, Charlton, Amanda, Brammah, Susan, Punetha, Jaya, Kesari, Akanchha, North, Kathryn N, Ilkovski, Biljana, Hoffman, Eric P, and Clarke, Nigel F

Subjects
MUSCULAR dystrophy genetics, NEUROMUSCULAR diseases, AUTOSOMAL recessive polycystic kidney, MISSENSE mutation, LONGITUDINAL ligaments, THERAPEUTICS
Abstract

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy with rigid spine revealed homozygous missense variants in ACTA1. Skeletal α-actin expression was preserved in these patients. This report expands the clinical and histological phenotype of ACTA1 disease to include congenital muscular dystrophy with rigid spine and dystrophic features on muscle biopsy. This represents a new class of recessive ACTA1 variants, which do not abolish protein expression. [ABSTRACT FROM AUTHOR]

Published
2015
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30. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Author

Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., and MacArthur, Daniel G.

Abstract

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.

Published
2017
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31. Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Author

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, and Laing NG

Subjects
Female, Humans, Male, Mutation genetics, Phenotype, Protein Isoforms genetics, Cardiomyopathy, Dilated congenital, Connectin genetics, Muscle Proteins genetics, Muscle, Skeletal pathology
Abstract

Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder., Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients., Results: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder., Interpretation: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124., (© 2018 American Neurological Association.)

Published
2018
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