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3. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Author

Juan-Mateu Jonàs, Rodríguez Maria, Nascimento Andrés, Jiménez-Mallebrera Cecilia, González-Quereda Lidia, Rivas Eloy, Paradas Carmen, Madruga Marcos, Sánchez-Ayaso Pedro, Jou Cristina, González-Mera Laura, Munell Francina, Roig-Quilis Manuel, Rabasa Maria, Hernández-Lain Aurelio, Díaz-Manera Jorge, Gallardo Eduard, Pascual Jordi, Verdura Edgard, Colomer Jaume, Baiget Montserrat, Olivé Montse, and Gallano Pia

Subjects
Dystrophin, DMD, Symptomatic carrier, Duchenne muscular dystrophy, Becker muscular dystrophy, X-chromosome inactivation, Medicine
Abstract

Abstract Background Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression of the DMD mutant allele. However the prognostic use of XCI analysis is controversial. We aimed to evaluate the correlation between X-chromosome inactivation and development of clinical symptoms in a series of symptomatic female carriers of dystrophinopathy. Methods We reviewed the clinical, pathological and genetic features of twenty-four symptomatic carriers covering a wide spectrum of clinical phenotypes. DMD gene analysis was performed using MLPA and whole gene sequencing in blood DNA and muscle cDNA. Blood and muscle DNA was used for X-chromosome inactivation (XCI) analysis thought the AR methylation assay in symptomatic carriers and their female relatives, asymptomatic carriers as well as non-carrier females. Results Symptomatic carriers exhibited 49.2% more skewed XCI profiles than asymptomatic carriers. The extent of XCI skewing in blood tended to increase in line with the severity of muscle symptoms. Skewed XCI patterns were found in at least one first-degree female relative in 78.6% of symptomatic carrier families. No mutations altering XCI in the XIST gene promoter were found. Conclusions Skewed XCI is in many cases familial inherited. The extent of XCI skewing is related to phenotype severity. However, the assessment of XCI by means of the AR methylation assay has a poor prognostic value, probably because the methylation status of the AR gene in muscle may not reflect in all cases the methylation status of the DMD gene.

Published
2012
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4. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Author

Rodríguez Cruz, Pedro M, Ravenscroft, Gianina, Natera, Daniel, Carr, Aisling, Manzur, Adnan, Liu, Wei Wei, Vella, Norbert R, Jericó, Ivonne, Gonzalez-Quereda, Lidia, Gallano, Pia, Montalto, Simon Attard, Davis, Mark R, Lamont, Phillipa J, Laing, Nigel G, Bourque, Pierre, Nascimento, Andres, Muntoni, Francesco, Polavarapu, Kiran, Lochmüller, Hanns, Palace, Jacqueline, and Beeson, David

Published
2023
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6. Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Author

Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, and Jimenez-Mallebrera, Cecilia

Published
2020
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7. Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Author

Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, and Jimenez-Mallebrera, Cecilia

Published
2019
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9. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

Author

Segarra-Casas, Alba, primary, Collet, Roger, additional, Gonzalez-Quereda, Lidia, additional, Vesperinas, Ana, additional, Caballero-Ávila, Marta, additional, Carbayo, Alvaro, additional, Díaz-Manera, Jordi, additional, Rodriguez, María José, additional, Gallardo, Eduard, additional, Gallano, Pia, additional, and Olivé, Montse, additional

Published
2023
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10. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Author

Instituto de Salud Carlos III, European Commission, Ministerio de Universidades (España), Segarra-Casas, Alba, Domínguez-Gonzalez, Cristina, Hernández-Laín, Aurelio, Sánchez-Calvin, María Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodríguez, Maria Isabel, Gallano, Pia, González-Quereda, Lidia, Instituto de Salud Carlos III, European Commission, Ministerio de Universidades (España), Segarra-Casas, Alba, Domínguez-Gonzalez, Cristina, Hernández-Laín, Aurelio, Sánchez-Calvin, María Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodríguez, Maria Isabel, Gallano, Pia, and González-Quereda, Lidia

Abstract

[Background] Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing., [Methods] RNA was extracted from seven muscle biopsy samples of patients with genetically undiagnosed DMD/BMD after routine genetic diagnosis. RT-PCR of the DMD gene was performed to detect the presence of alternative transcripts. Droplet digital PCR and whole-genome sequencing were also performed in some patients., [Results] We identified an alteration in the mRNA level in all the patients. We detected three pseudoexons in DMD caused by deep intronic variants, two of them not previously reported. We also identified a chromosomal rearrangement between Xp21.2 and 8p22. Furthermore, we detected three exon skipping events with unclear pathogenicity., [Conclusion] These findings indicate that mRNA analysis of the DMD gene is a valuable tool to reach a precise genetic diagnosis in patients with a clinical and anatomopathological suspicion of dystrophinopathy that remain genetically undiagnosed after routine genetic testing.

Published
2023

11. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Author

Díaz-Manera, Jordi, Alejaldre, Aida, González, Laura, Olivé, Montse, Gómez-Andrés, David, Muelas, Nuria, Vílchez, Juan José, Llauger, Jaume, Carbonell, Pilar, Márquez-Infante, Celedonio, Fernández-Torrón, Roberto, Poza, Juan José, López de Munáin, Adolfo, González-Quereda, Lidia, Mirabet, Sonia, Clarimon, Jordi, Gallano, Pía, Rojas-García, Ricard, Gallardo, Eduard, and Illa, Isabel

Published
2016
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12. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Author

Segarra-Casas, Alba, primary, Domínguez-González, Cristina, additional, Hernández-Laín, Aurelio, additional, Sanchez-Calvin, Maria Teresa, additional, Camacho, Ana, additional, Rivas, Eloy, additional, Campo-Barasoain, Andrea, additional, Madruga, Marcos, additional, Ortez, Carlos, additional, Natera-de Benito, Daniel, additional, Nascimento, Andrés, additional, Codina, Anna, additional, Rodriguez, Maria Jose, additional, Gallano, Pia, additional, and Gonzalez-Quereda, Lidia, additional

Published
2022
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13. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Author

Poyatos‐García, Javier, primary, Martí, Pilar, additional, Liquori, Alessandro, additional, Muelas, Nuria, additional, Pitarch, Inmaculada, additional, Martinez‐Dolz, Luis, additional, Rodríguez, Benjamin, additional, Gonzalez‐Quereda, Lidia, additional, Damiá, Maria, additional, Aller, Elena, additional, Selva‐Gimenez, Marta, additional, Vilchez, Roger, additional, Diaz‐Manera, Jordi, additional, Alonso‐Pérez, Jorge, additional, Barcena, José Eulalio, additional, Jauregui, Amaia, additional, Gámez, Josep, additional, Aladrén, Jesus Angel, additional, Fernández, Ariadna, additional, Montolio, Marisol, additional, Azorin, Inmaculada, additional, Hervas, David, additional, Casasús, Ana, additional, Nieto, Marisa, additional, Gallano, Pia, additional, Sevilla, Teresa, additional, and Vilchez, Juan Jesus, additional

Published
2022
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14. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.

Author

Segarra-Casas, Alba, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Sanchez-Calvin, Maria Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodriguez, Maria Jose, Gallano, Pia, and Gonzalez-Quereda, Lidia

Abstract

Background: Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing. Methods: RNA was extracted from seven muscle biopsy samples of patients with genetically undiagnosed DMD/BMD after routine genetic diagnosis. RT-PCR of the DMD gene was performed to detect the presence of alternative transcripts. Droplet digital PCR and whole-genome sequencing were also performed in some patients. Results: We identified an alteration in the mRNA level in all the patients. We detected three pseudoexons in DMD caused by deep intronic variants, two of them not previously reported. We also identified a chromosomal rearrangement between Xp21.2 and 8p22. Furthermore, we detected three exon skipping events with unclear pathogenicity. Conclusion: These findings indicate that mRNA analysis of the DMD gene is a valuable tool to reach a precise genetic diagnosis in patients with a clinical and anatomopathological suspicion of dystrophinopathy that remain genetically undiagnosed after routine genetic testing. [ABSTRACT FROM AUTHOR]

Published
2023
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15. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Author

Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millán, José M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto, Sanz, Pascual, Rubio, Vicente, and Llácer, José L.

Subjects
Biomedical Research, Epidemiology, Novel genes, Research network, New therapeutic approaches, Rare diseases, Rare Diseases, Diagnòstic, Diagnosis, Genetics, Humans, Malalties rares, Epidemiologia, Genètica, Genetics (clinical)
Abstract

13 páginas,1 figura, 3 tablas, 1 apéndice. Se extraen los autores pertenecientes a The CIBERER network que trabajan en Centros del CSIC del Appendix A, CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research., This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and Innovation

Published
2022

16. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Author

Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795], Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis Alberto, Montoliu, Lluís, Carracedo, Ángel, Millán, José María, Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José A., Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodriguez-de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana Belén, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795], Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis Alberto, Montoliu, Lluís, Carracedo, Ángel, Millán, José María, Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José A., Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodriguez-de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana Belén, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., and Nieto, M. Ángela

Abstract

CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research.

Published
2022

17. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Author

Bullich, Gemma, primary, Matalonga, Leslie, additional, Pujadas, Montserrat, additional, Papakonstantinou, Anastasios, additional, Piscia, Davide, additional, Tonda, Raúl, additional, Artuch, Rafael, additional, Gallano, Pia, additional, Garrabou, Glòria, additional, González, Juan R., additional, Grinberg, Daniel, additional, Guitart, Míriam, additional, Laurie, Steven, additional, Lázaro, Conxi, additional, Luengo, Cristina, additional, Martí, Ramon, additional, Milà, Montserrat, additional, Ovelleiro, David, additional, Parra, Genís, additional, Pujol, Aurora, additional, Tizzano, Eduardo, additional, Macaya, Alfons, additional, Palau, Francesc, additional, Ribes, Antònia, additional, Pérez-Jurado, Luis A., additional, Beltran, Sergi, additional, Schlüter, Agatha, additional, Rodriguez-Palmero, Agustí, additional, Cáceres, Alejandro, additional, Nascimento, Andrés, additional, García-Cazorla, Àngels, additional, Cueto-González, Anna, additional, Marcé-Grau, Anna, additional, Nel.lo, Anna Ruiz, additional, Martínez-Monseny, Antonio, additional, Sànchez, Aurora, additional, García, Belén, additional, Pérez-Dueñas, Belén, additional, Gel, Bernat, additional, Fusté, Berta, additional, Hernández-Ferrer, Carles, additional, Casasnovas, Carlos, additional, Ortez, Carlos, additional, Arjona, César, additional, Hernando-Davalillo, Cristina, additional, de Benito, Daniel Natera, additional, Amador, Daniel Picó, additional, Gómez-Andrés, David, additional, Yubero, Dèlia, additional, Pelegrí-Sisó, Dolors, additional, Verdura, Edgard, additional, García-Arumí, Elena, additional, Castellanos, Elisabeth, additional, Gabau, Elisabeth, additional, Tobías, Ester, additional, López-Grondona, Fermina, additional, Cardellach, Francesc, additional, Garcia-Garcia, Francesc Josep, additional, Munell, Francina, additional, Tort, Frederic, additional, Aznar, Gemma, additional, Olivé-Cirera, Gemma, additional, Tell, Gemma, additional, Muñoz-Pujol, Gerard, additional, Paramonov, Ida, additional, Blanco, Ignacio, additional, Madrigal, Irene, additional, Valenzuela, Irene, additional, Gut, Ivo, additional, Cusco, Ivon, additional, Trotta, Jean-Rémi, additional, Cruz, Jordi, additional, Díaz-Manera, Jordi, additional, Milisenda, José César, additional, Ma Grau, Josep, additional, Garcia-Villoria, Judit, additional, Armstrong, Judith, additional, Cantó, Judith, additional, Sala-Coromina, Júlia, additional, Rodríguez-Revenga, Laia, additional, Alias, Laura, additional, Gort, Laura, additional, González-Quereda, Lídia, additional, Costa, Mar, additional, Fernández-Callejo, Marcos, additional, López-Sánchez, Marcos, additional, Álvarez-Mora, Maria Isabel, additional, Gut, Marta, additional, Serrano, Mercedes, additional, Raspall-Chaure, Miquel, additional, Toro, Mireia del, additional, Bayés, Mònica, additional, Díez, Neus Baena, additional, Spataro, Nino, additional, Capdevila, Núria, additional, Ugarteburu, Olatz, additional, Muñoz-Cabello, Patricia, additional, Duque, Penélope Romero, additional, Rabionet, Raquel, additional, Rojas-García, Ricard, additional, Calvo, Rosa, additional, Urreizti, Roser, additional, Bernal, Sara, additional, Boronat, Susana, additional, Balcells, Susanna, additional, and Vendrell, Teresa, additional

Published
2022
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18. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Author

Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, de Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millan, Jose M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa M., Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero, Rosa, Jiménez-Estrada, Juan Andrés, Manguán García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Heredia, Miguel, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], and Llácer, José L. [0000-0001-5304-1795]

Subjects
Novel genes, Genetics, Research network, New therapeutic approaches, Rare diseases
Abstract

13 páginas,1 figura, 3 tablas, 1 apéndice. Se extraen los autores pertenecientes a The CIBERER network que trabajan en Centros del CSIC del Appendix A CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research. This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and Innovation

Published
2022

19. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

Author

Alonso-Pérez, Jorge, primary, González-Quereda, Lidia, additional, Bruno, Claudio, additional, Panicucci, Chiara, additional, Alavi, Afagh, additional, Nafissi, Shahriar, additional, Nilipour, Yalda, additional, Zanoteli, Edmar, additional, Isihi, Lucas Michielon de Augusto, additional, Melegh, Béla, additional, Hadzsiev, Kinga, additional, Muelas, Nuria, additional, Vílchez, Juan J, additional, Dourado, Mario Emilio, additional, Kadem, Naz, additional, Kutluk, Gultekin, additional, Umair, Muhammad, additional, Younus, Muhammad, additional, Pegorano, Elena, additional, Bello, Luca, additional, Crawford, Thomas O, additional, Suárez-Calvet, Xavier, additional, Töpf, Ana, additional, Guglieri, Michela, additional, Marini-Bettolo, Chiara, additional, Gallano, Pia, additional, Straub, Volker, additional, and Díaz-Manera, Jordi, additional

Published
2021
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21. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Author

Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, and Díaz-Manera, Jordi

Abstract

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuro

Published
2020

22. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Author

Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Centro de Investigación Biomédica en Red Enfermedades Raras (España), González-Quereda, Lidia, Rodríguez, María José, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, Gallardo, Eduard, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Olivé, Montse, González-Mera, Laura, López de Munain, Adolfo, Zulaica, Miren, Poza, Juan José, Jericó, Ivonne, Torne, Laura, Riera, Pau, Milisenda, José, Sánchez, Aurora, Garrabou, Glòria, Llano, Isabel, Madruga, Marcos, Gallano, Pia, Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Centro de Investigación Biomédica en Red Enfermedades Raras (España), González-Quereda, Lidia, Rodríguez, María José, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, Gallardo, Eduard, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Olivé, Montse, González-Mera, Laura, López de Munain, Adolfo, Zulaica, Miren, Poza, Juan José, Jericó, Ivonne, Torne, Laura, Riera, Pau, Milisenda, José, Sánchez, Aurora, Garrabou, Glòria, Llano, Isabel, Madruga, Marcos, and Gallano, Pia

Abstract

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such as TTN, NEB and RYR1. We evaluated the diagnostic value of a custom targeted next-generation sequencing gene panel to study the mutational spectrum of a subset of NMD patients in Spain. In an NMD cohort of 207 patients with congenital myopathies, distal myopathies, congenital and adult-onset muscular dystrophies, and congenital myasthenic syndromes, we detected causative mutations in 102 patients (49.3%), involving 42 NMD-related genes. The most common causative genes, TTN and RYR1, accounted for almost 30% of cases. Thirty-two of the 207 patients (15.4%) carried variants of uncertain significance or had an unidentified second mutation to explain the genetic cause of the disease. In the remaining 73 patients (35.3%), no candidate variant was identified. In combination with patients’ clinical and myopathological data, the custom gene panel designed in our lab proved to be a powerful tool to diagnose patients with myopathies, muscular dystrophies and congenital myasthenic syndromes. Targeted NGS approaches enable a rapid and cost-effective analysis of NMD- related genes, offering reliable results in a short time and relegating invasive techniques to a second tier.

Published
2020

23. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

Author

Natera-de Benito, Daniel, primary, Ortez, Carlos, additional, Jou, Cristina, additional, Jimenez-Mallebrera, Cecilia, additional, Codina, Anna, additional, Carrera-García, Laura, additional, Expósito-Escudero, Jessica, additional, Cesar, Sergi, additional, Martorell, Loreto, additional, Gallano, Pia, additional, Gonzalez-Quereda, Lidia, additional, Cuadras, Daniel, additional, Colomer, Jaume, additional, Yubero, Delia, additional, Palau, Francesc, additional, and Nascimento, Andres, additional

Published
2021
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25. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Author

Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jonas A., Schmidt, Wolfgang M., Sejersen, Thomas, Tuffery-Giraud, Sylvie, Uyguner, Zehra Oya, Witcomb, Luci A., Yau, Shu, and Nelson, Stanley F.

Published
2019
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26. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

Author

Bobadilla-Quesada, Edna Julieth, primary, Natera-de Benito, Daniel, additional, Carrera-García, Laura, additional, Ortez, Carlos, additional, Exposito-Escudero, Jessica, additional, Jimenez-Mallebrera, Cecilia, additional, Jou, Cristina, additional, Codina, Anna, additional, Corbera, Joan, additional, Moya, Obdulia, additional, Saez, Veronica, additional, Gonzalez-Quereda, Lidia, additional, Gallano, Pia, additional, Colomer, Jaume, additional, Cuadras, Daniel, additional, Medina, Julita, additional, Yoldi, María Eugenia, additional, and Nascimento, Andrés, additional

Published
2020
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27. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Author

Alonso-Pérez, Jorge, primary, González-Quereda, Lidia, additional, Bello, Luca, additional, Guglieri, Michela, additional, Straub, Volker, additional, Gallano, Pia, additional, Semplicini, Claudio, additional, Pegoraro, Elena, additional, Zangaro, Vittoria, additional, Nascimento, Andrés, additional, Ortez, Carlos, additional, Comi, Giacomo Pietro, additional, Dam, Leroy ten, additional, De Visser, Marianne, additional, van der Kooi, A J, additional, Garrido, Cristina, additional, Santos, Manuela, additional, Schara, Ulrike, additional, Gangfuß, Andrea, additional, Løkken, Nicoline, additional, Storgaard, Jesper Helbo, additional, Vissing, John, additional, Schoser, Benedikt, additional, Dekomien, Gabriele, additional, Udd, Bjarne, additional, Palmio, Johanna, additional, D'Amico, Adele, additional, Politano, Luisa, additional, Nigro, Vincenzo, additional, Bruno, Claudio, additional, Panicucci, Chiara, additional, Sarkozy, Anna, additional, Abdel-Mannan, Omar, additional, Alonso-Jimenez, Alicia, additional, Claeys, Kristl G, additional, Gomez-Andrés, David, additional, Munell, Francina, additional, Costa-Comellas, Laura, additional, Haberlová, Jana, additional, Rohlenová, Marie, additional, Elke, De Vos, additional, De Bleecker, Jan L, additional, Dominguez-González, Cristina, additional, Tasca, Giorgio, additional, Weiss, Claudia, additional, Deconinck, Nicolas, additional, Fernández-Torrón, Roberto, additional, López de Munain, Adolfo, additional, Camacho-Salas, Ana, additional, Melegh, Béla, additional, Hadzsiev, Kinga, additional, Leonardis, Lea, additional, Koritnik, Blaz, additional, Garibaldi, Matteo, additional, de Leon-Hernández, Juan Carlos, additional, Malfatti, Edoardo, additional, Fraga-Bau, Arturo, additional, Richard, Isabelle, additional, Illa, Isabel, additional, and Díaz-Manera, Jordi, additional

Published
2020
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28. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author

Matalonga, Leslie, primary, Laurie, Steven, additional, Papakonstantinou, Anastasios, additional, Piscia, Davide, additional, Mereu, Elisabetta, additional, Bullich, Gemma, additional, Thompson, Rachel, additional, Horvath, Rita, additional, Pérez-Jurado, Luis, additional, Riess, Olaf, additional, Gut, Ivo, additional, van Ommen, Gert-Jan, additional, Lochmüller, Hanns, additional, Beltran, Sergi, additional, Renieri, Alessandra, additional, Dursun, Ali, additional, Matilla-Duenas, Antoni, additional, Cormand, Bru, additional, Rivolta, Carlo, additional, Ayuso, Carmen, additional, Espinós, Carmen, additional, Scerri, Christian, additional, Yalnizoglu, Dilek, additional, Soler, Doriette, additional, Morava, Eva, additional, Barbetti, Fabrizio, additional, Forzano, Francesca, additional, Mari, Francesca, additional, Muntoni, Francesco, additional, Tort, Frederic, additional, Houlden, Henry James, additional, Tejada, Maria-Isabel, additional, Senderek, Jan, additional, Benitez, Javier, additional, De La Calle, Javier Corral, additional, Serra, Jordi, additional, Millán, José Ma, additional, Segovia, Jose, additional, Gimeno Blanes, Juan Ramon, additional, Armstrong, Judith, additional, Ozgul, Koksal, additional, Vilarinho, Laura, additional, Montoliu, Lluis, additional, Posada, Manuel, additional, Mencarelli, Maria Antonietta, additional, Mora, Marina, additional, Bianchi, Paola, additional, Seeman, Pavel, additional, Elliott, Perry M., additional, Ferlini, Alessandra, additional, Brice, Alexis, additional, Wirth, Brunhilde, additional, Hanna, Mike, additional, Tabrizi, Sarah, additional, Klockgether, Thomas, additional, Timmerman, Vincent, additional, Straub, Volker, additional, Kurul, Semra Hiz, additional, Oktay, Yavuz, additional, Gungor, Serdal, additional, Yaramis, Ahmet, additional, Yis, Uluc, additional, Macaya, Alfons, additional, Ribes, Antonia, additional, Pujol, Aurora, additional, Lázaro, Conxi, additional, Grinberg, Daniel, additional, Tizzano, Eduardo, additional, Cardellach, Francesc, additional, Palau, Francesc, additional, Milà, Montse, additional, Gallano, Pia, additional, Artuch, Rafael, additional, MartiSeves, Ramon, additional, Villanueva, Gonzalo, additional, Vidal, Silvia, additional, Garrabou, Gloria, additional, Balcells, Susanna, additional, Urreizti, Roser, additional, López, Estrella, additional, Cuscó, Ivon, additional, Valenzuela, Irene, additional, and Sabater, Maria, additional

Published
2020
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29. The phenotype and genotype of congenital myopathies based on a large pediatric cohort

Author

Benito, Daniel Natera de, primary, Ortez, Carlos, additional, Jou, Cristina, additional, Mallebrera, Cecilia Jim nez, additional, Codina, Anna, additional, a, Laura Carrera Garc, additional, Escudero, Jesica Exposito, additional, Cesar, Sergi, additional, Martorell, Loreto, additional, GALLANO, PIA, additional, Quereda, Lidia Gonz lez, additional, Cuadras, Daniel, additional, Colomer, Jaume, additional, Yubero, Delia, additional, Palau, Francesc, additional, and Nascimento, Andr s, additional

Published
2020
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30. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Author

Gonzalez-Quereda, Lidia, primary, Rodriguez, Maria Jose, additional, Diaz-Manera, Jordi, additional, Alonso-Perez, Jorge, additional, Gallardo, Eduard, additional, Nascimento, Andres, additional, Ortez, Carlos, additional, Natera-de Benito, Daniel, additional, Olive, Montse, additional, Gonzalez-Mera, Laura, additional, Lopez de Munain, Adolfo, additional, Zulaica, Miren, additional, Poza, Juan Jose, additional, Jerico, Ivonne, additional, Torne, Laura, additional, Riera, Pau, additional, Milisenda, Jose, additional, Sanchez, Aurora, additional, Garrabou, Gloria, additional, Llano, Isabel, additional, Madruga-Garrido, Marcos, additional, and Gallano, Pia, additional

Published
2020
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33. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Author

Bogliolo, Massimo, primary, Pujol, Roser, additional, Aza-Carmona, Miriam, additional, Muñoz-Subirana, Núria, additional, Rodriguez-Santiago, Benjamin, additional, Casado, José Antonio, additional, Rio, Paula, additional, Bauser, Christopher, additional, Reina-Castillón, Judith, additional, Lopez-Sanchez, Marcos, additional, Gonzalez-Quereda, Lidia, additional, Gallano, Pia, additional, Catalá, Albert, additional, Ruiz-Llobet, Ana, additional, Badell, Isabel, additional, Diaz-Heredia, Cristina, additional, Hladun, Raquel, additional, Senent, Leonort, additional, Argiles, Bienvenida, additional, Bergua Burgues, Juan Miguel, additional, Bañez, Fatima, additional, Arrizabalaga, Beatriz, additional, López Almaraz, Ricardo, additional, Lopez, Monica, additional, Figuera, Ángela, additional, Molinés, Antonio, additional, Pérez de Soto, Inmaculada, additional, Hernando, Inés, additional, Muñoz, Juan Antonio, additional, del Rosario Marin, Maria, additional, Balmaña, Judith, additional, Stjepanovic, Neda, additional, Carrasco, Estela, additional, Cuesta, Isabel, additional, Cosuelo, José Miguel, additional, Regueiro, Alexandra, additional, Moraleda Jimenez, José, additional, Galera-Miñarro, Ana Maria, additional, Rosiñol, Laura, additional, Carrió, Anna, additional, Beléndez-Bieler, Cristina, additional, Escudero Soto, Antonio, additional, Cela, Elena, additional, de la Mata, Gregorio, additional, Fernández-Delgado, Rafael, additional, Garcia-Pardos, Maria Carmen, additional, Sáez-Villaverde, Raquel, additional, Barragaño, Marta, additional, Portugal, Raquel, additional, Lendinez, Francisco, additional, Hernadez, Ines, additional, Vagace, José Manue, additional, Tapia, Maria, additional, Nieto, José, additional, Garcia, Marta, additional, Gonzalez, Macarena, additional, Vicho, Cristina, additional, Galvez, Eva, additional, Valiente, Alberto, additional, Antelo, Maria Luisa, additional, Ancliff, Phil, additional, Garcia, Francisco, additional, Dopazo, Joaquin, additional, Sevilla, Julian, additional, Paprotka, Tobias, additional, Pérez-Jurado, Luis Alberto, additional, Bueren, Juan, additional, and Surralles, Jordi, additional

Published
2019
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34. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease.

Author

Gonzalez‐Quereda, Lidia, Pagola, Inmaculada, Fuentes Prior, Pablo, Bernal, Sara, Rodriguez, Maria Jose, Torné, Laura, Salgado Garrido, Josefa, Gallano, Pia, and Jericó, Ivonne

Subjects
MOTOR neuron diseases, NF-kappa B, SPINAL muscular atrophy
Abstract

The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases. [ABSTRACT FROM AUTHOR]

Published
2021
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35. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Author

Bogliolo, Massimo, Pujol, Roser, Aza-Carmona, Miriam, Muñoz-S ubirana, Núria, Rodriguez-Santiago, Benjamin, Antonio Casado, José, Rio, Paula, Bauser, Christopher, Reina-Castillón, Judith, Lopez-Sanchez, Marcos, Gonzalez-Quereda, Lidia, Gallano, Pia, Catalá, Albert, Ruiz-Llobet, Ana, Badell, Isabel, Diaz-Heredia, Cristina, Hladun, Raquel, Senent, Leonort, Argiles, Bienvenida, and Bergua Burgues, Juan Miguel

Abstract

Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since FA is caused by point mutations and large deletions in 22 genes following three heritability patterns. To optimise FA patients' characterisation, we developed a simplified but effective methodology based on whole exome sequencing (WES) and functional studies. Methods 68 patients with FA were analysed by commercial WES services. Copy number variations were evaluated by sequencing data analysis with RStudio. To test FANCA missense variants, wt FANCA cDNA was cloned and variants were introduced by site-directed mutagenesis. Vectors were then tested for their ability to complement DNA repair defects of a FANCA-KO human cell line generated by TALEN technologies. Results We identified 93.3% of mutated alleles including large deletions. We determined the pathogenicity of three FANCA missense variants and demonstrated that two FANCA variants reported in mutations databases as 'affecting functions' are SNPs. Deep analysis of sequencing data revealed patients' true mutations, highlighting the importance of functional analysis. In one patient, no pathogenic variant could be identified in any of the 22 known FA genes, and in seven patients, only one deleterious variant could be identified (three patients each with FANCA and FANCD2 and one patient with FANCE mutations) Conclusion WES and proper bioinformatics analysis are sufficient to effectively characterise patients with FA regardless of the rarity of their complementation group, type of mutations, mosaic condition and DNA source. [ABSTRACT FROM AUTHOR]

Published
2020
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38. Novel DESmutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum

Author

Alonso-Pérez, Jorge, Barrachina-Esteve, Oriol, González-Quereda, Lidia, Viguera-Martinez, Maria Luisa, Luján-Torné, Manel, Guitart-Feliubadaló, Miriam, Miguel Martínez, José, Carbayo, Álvaro, Gallano, Pia, Díaz-Manera, Jordi, Olivé, Montse, and Rojas-Garcia, Ricard

Abstract

Background: Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, as a result of a mutation in the DESgene.

Published
2024
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44. LGMD2I in Spanish and Croatian Populations

Author

Freixas, Alba, Olive, Montserrat, Canki-Klain, Nina, Povedano, Monica, Jauma, S, Colomer, Jaume, Rodriguez, Maria Jose, Martinez Matos, JA, Baiget, Montserrat, and Gallano, Pia

Subjects
LGMD 2I, FKRP
Abstract

Limb Girdle Muscular Dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy caused by mutations in the Fukutin Related Protein (FKRP). This gene is located at 19q13.3 and contains four exons. Immunohistochemical analysis is not possible to date because no specific antibodies have been isolated. Thus, mutational analysis is the method to obtain an accurate molecular diagnosis of the disease. The aim of this work is: (1) to diagnose the patients with clinical features suggesting LGMD2I, (2) to observe the frequency of this pathology in these two populations and, (3) to offer genetic counselling to the affected families. We studied 80 Spanish and Croatian patients presenting a LGMD2I phenotype and in whom we previously excluded a dystrophinopathy, a LGMD2A, a LGMD2C and a LGMD2D. The molecular study was performed following two different techniques. First of all, we analyzed the presence of the L276I mutation (reccurrent in North European population) by restriction enzyme analysis. Moreover, we sequenced the exon 4 (unique coding exon of FKRP gene). We found four missense mutations in eleven patients: E55Q, R143S, L276I and G373S. Two of these mutations (E55Q and G373S) has not been previously described. Their pathogenia was demonstrated by the analysis of 50 chromosomes from normal controls and 50 chromosomes from other myopathy patients (sarcoglycanopathies, DMD, BMD, myotonic dystrophy, caveolinopathy). The L276I mutation was identified in eight patients (3 Spanish and 5 Croatian) and should be considered the more frequent FKRP mutation in the populations studied. The low number of FKRP mutations identified despite the patients were very well classified could indicate the low frequency of LGMD2I in these two populations.

Published
2006

45. Limb girdle muscular dystrophy 2I in Spanish and Croatian population

Author

Freixas , A, Canki-Klain, Nina, Olive, M, Rodriguez, M, Calaf, M, Colomer, J, Arteaga, R, Baiget, M, and Gallano, Pia

Subjects
Limb Girdle muscular dystrophy, autosomal recessive, LGMD2I, fukutin related protein, FKRP, mutations, Spain, Croatia
Abstract

Limb Girdle Muscular Dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy caused by mutations in the Fukutin Related Protein(FKRP). This gene is located at 19q13.3 and contains four exons. Immunohistochemical analysis is not possible to date because no specific antibodies have been isolated. Thus, mutational analysis is the method to obtain an accurate molecular diagnosis of the disease. The aim of this work is: 1) to diagnose the patients with clinical features suggesting LGMD2I, 2) to observe the frequency of this pathology in these two populations and, 3) to offer genetic counselling to the affected families. We studied 60 Spanish and 10 Croatian patients presenting a LGMD2I phenotype and in whom we previously excluded a dystrophinopathy, LGMD2A, LGMD2C and LGMD2D. The molecular study was performed following two steps: 1) The analysis of the L276L mutation reccurrent in North European population) by restriction enzyme analysis. 2)The sequencing of the unique coding exon 4. We found four missens mutations in seven patients: E55Q, R143S, L276L and G373S, two of them were novel mutations: E55Q and g373S. Their pathogenia were demonstrate analysing 50 chromosomes from normal controls and 50 chromosomes from other myopathy patients. The L276L mutation was identified in four patients (3Spanish and 1 Croatian) and should be considered the more frequent FKRP mutation in the population studied. The low number of FKRP mutations identified despite the patients were very well classified could indicate the low frequency of LGMD2I in these two populations.

Published
2006

46. Utility of two SMN1variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

Author

Alías, Laura, Bernal, Sara, Calucho, Maite, Martínez, Elisabeth, March, Francesca, Gallano, Pia, Fuentes-Prior, Pablo, Abuli, Anna, Serra-Juhe, Clara, and Tizzano, Eduardo

Abstract

Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1copy in one of the alleles (1/0 carriers). However, a few carriers lack SMN1in one of their chromosomes, but present two gene copies in the other. These “2/0 carriers” are undistinguishable from non-carrier individuals (1/1) with currently available methods. Previous association of SMN1variants c.*3 + 80 T > G and c.*211_*212del with two SMN1copies in cisin Ashkenazi population prompted us to analyze them in 270 Spanish individuals (SMA carriers, patients and general population). Both variants were much more frequently detected in chromosomes with 2 SMN1copies in cisin comparison with chromosomes carrying one copy (17.9 vs. 0.7%; p< 0.001). In particular, one-fifth of 2/0 SMA carriers harboured one or both variants compared to none of 99 non-carriers with two SMN1copies (p< 0.001). The c.*211_*212del variant was also much more frequent in exon 8 of SMN2–SMN1hybrids than in that of intact SMN1genes (20 vs. 0.83%, p< 0.001), suggesting its association with chromosomal rearrangements. Although absence of these variants does not exclude that a particular individual is a 2/0 SMA carrier, their presence is valuable to substantially increase residual risk in putative carriers, thus improving genetic counselling.

Published
2018
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47. Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Author

Juan-Mateu, Jonàs, primary, González-Quereda, Lidia, additional, Rodríguez, Maria José, additional, Verdura, Edgard, additional, Lázaro, Kira, additional, Jou, Cristina, additional, Nascimento, Andrés, additional, Jiménez-Mallebrera, Cecilia, additional, Colomer, Jaume, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Foncuberta, Maria Eugenia, additional, Pascual-Pascual, Samuel Ignacio, additional, Molano, Jesús, additional, Baiget, Montserrat, additional, and Gallano, Pia, additional

Published
2013
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