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Pregled bibliografske jedinice broj: 1248369

Genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness

Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R.; England, Eleina M.; Laricchia, Kristen M.; Mullen, Thomas; Valkanas, Elise; Xu, Liwen et al.
genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness // Genetics in Medicine, 22 (2020), 9; 1478-1488 doi:10.1038/s41436-020-0840-3 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1248369 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness
(Genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysis)

Autori
Töpf, Ana ; Johnson, Katherine ; Bates, Adam ; Phillips, Lauren ; Chao, Katherine R. ; England, Eleina M. ; Laricchia, Kristen M. ; Mullen, Thomas ; Valkanas, Elise ; Xu, Liwen ; Bertoli, Marta ; Blain, Alison ; Casasús, Ana B. ; Duff, Jennifer ; Mroczek, Magdalena ; Specht, Sabine ; Lek, Monkol ; Ensini, Monica ; MacArthur, Daniel G. ; Akay, Ela ; Alonso-Pérez, Jorge ; Baets, Jonathan ; Barisic, Nina ; Bastian, Alexandra ; Borell, Sabine ; Chamova, Teodora ; Claeys, Kristl ; Colomer, Jaume ; Coppens, Sandra ; Deconinck, Nicolas ; de Ridder, Willem ; Díaz-Manera, Jordi ; Domínguez-González, Cristina ; Duncan, Alexis ; Durmus, Hacer ; Fahmy, Nagia A. ; Farrugia, Maria Elena ; Fernández-Torrón, Roberto ; Gonzalez- Quereda, Lidia ; Haberlova, Jana ; von der Hagen, Maja ; Hahn, Andreas ; Jakovčević, Antonia ; Jerico Pascual, Ivonne ; Kapetanovic, Solange ; Kenina, Viktorija ; Kirschner, Janbernd ; Klein, Andrea ; Kölbel, Heike ; Kostera-Pruszczyk, Anna ; Kulshrestha, Richa ; Lähdetie, Jaana ; Layegh, Mahsa ; Longman, Cheryl ; López de Munain, Adolfo ; Loscher, Wolfgang ; Lusakowska, Anna ; Maddison, Paul ; Magot, Armelle ; Majumdar, Anirban ; Martí, Pilar ; Martínez Arroyo, Amaia ; Mazanec, Radim ; Mercier, Sandra ; Mongini, Tiziana ; Muelas, Nuria ; Nascimento, Andrés ; Nafissi, Shahriar ; Omidi, Shirin ; Ortez, Carlos ; Paquay, Stéphanie ; Pereon, Yann ; Perić, Stojan ; Ponzalino, Valentina ; Rakočević Stojanović, Vidosava ; Remiche, Gauthier ; Rodríguez Sainz, Aida ; Rudnik, Sabine ; Sanchez Albisua, Iciar ; Santos, Manuela ; Schara, Ulrike ; Shatillo, Andriy ; Sertić, Jadranka ; Stephani, Ulrich ; Strang- Karlsson, Sonja ; Sznajer, Yves ; Tanev, Ani ; Tournev, Ivailo ; Van den Bergh, Peter ; Van Parijs, Vinciane ; Vílchez, Juan ; Vill, Katharina ; Vissing, John ; Wallgren-Pettersson, Carina ; Wanschitz, Julia ; Willis, Tracey ; Witting, Nanna ; Zulaica, Miren ; Straub, Volker

Izvornik
Genetics in Medicine (1098-3600) 22 (2020), 9; 1478-1488

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
genetic diagnosis ; limb-girdle weakness ; neuromuscular disease ; next-generation sequencing ; targeted exome analysis
(genetic diagnosis ; limb-girdle weakness ; neuromuscular disease ; next-generation sequencing ; targeted exome analysis.)

Sažetak
Abstract Purpose: Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Methods: Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers ; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. Results: We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases ; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Conclusion: Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes. .

Izvorni jezik
Engleski



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Jadranka Sertić (autor)

Avatar Url Nina Barišić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R.; England, Eleina M.; Laricchia, Kristen M.; Mullen, Thomas; Valkanas, Elise; Xu, Liwen et al.
genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness // Genetics in Medicine, 22 (2020), 9; 1478-1488 doi:10.1038/s41436-020-0840-3 (međunarodna recenzija, članak, znanstveni)
Töpf, A., Johnson, K., Bates, A., Phillips, L., Chao, K., England, E., Laricchia, K., Mullen, T., Valkanas, E. & Xu, L. (2020) genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness. Genetics in Medicine, 22 (9), 1478-1488 doi:10.1038/s41436-020-0840-3.
@article{article, author = {T\"{o}pf, Ana and Johnson, Katherine and Bates, Adam and Phillips, Lauren and Chao, Katherine R. and England, Eleina M. and Laricchia, Kristen M. and Mullen, Thomas and Valkanas, Elise and Xu, Liwen and Bertoli, Marta and Blain, Alison and Casas\'{u}s, Ana B. and Duff, Jennifer and Mroczek, Magdalena and Specht, Sabine and Lek, Monkol and Ensini, Monica and MacArthur, Daniel G. and Akay, Ela and Alonso-P\'{e}rez, Jorge and Baets, Jonathan and Barisic, Nina and Bastian, Alexandra and Borell, Sabine and Chamova, Teodora and Claeys, Kristl and Colomer, Jaume and Coppens, Sandra and Deconinck, Nicolas and de Ridder, Willem and D\'{\i}az-Manera, Jordi and Dom\'{\i}nguez-Gonz\'{a}lez, Cristina and Duncan, Alexis and Durmus, Hacer and Fahmy, Nagia A. and Farrugia, Maria Elena and Fern\'{a}ndez-Torr\'{o}n, Roberto and Gonzalez- Quereda, Lidia and Haberlova, Jana and von der Hagen, Maja and Hahn, Andreas and Jakov\v{c}evi\'{c}, Antonia and Jerico Pascual, Ivonne and Kapetanovic, Solange and Kenina, Viktorija and Kirschner, Janbernd and Klein, Andrea and K\"{o}lbel, Heike and Kostera-Pruszczyk, Anna and Kulshrestha, Richa and L\"{a}hdetie, Jaana and Layegh, Mahsa and Longman, Cheryl and L\'{o}pez de Munain, Adolfo and Loscher, Wolfgang and Lusakowska, Anna and Maddison, Paul and Magot, Armelle and Majumdar, Anirban and Mart\'{\i}, Pilar and Mart\'{\i}nez Arroyo, Amaia and Mazanec, Radim and Mercier, Sandra and Mongini, Tiziana and Muelas, Nuria and Nascimento, Andr\'{e}s and Nafissi, Shahriar and Omidi, Shirin and Ortez, Carlos and Paquay, St\'{e}phanie and Pereon, Yann and Peri\'{c}, Stojan and Ponzalino, Valentina and Rako\v{c}evi\'{c} Stojanovi\'{c}, Vidosava and Remiche, Gauthier and Rodr\'{\i}guez Sainz, Aida and Rudnik, Sabine and Sanchez Albisua, Iciar and Santos, Manuela and Schara, Ulrike and Shatillo, Andriy and Serti\'{c}, Jadranka and Stephani, Ulrich and Strang- Karlsson, Sonja and Sznajer, Yves and Tanev, Ani and Tournev, Ivailo and Van den Bergh, Peter and Van Parijs, Vinciane and V\'{\i}lchez, Juan and Vill, Katharina and Vissing, John and Wallgren-Pettersson, Carina and Wanschitz, Julia and Willis, Tracey and Witting, Nanna and Zulaica, Miren and Straub, Volker}, year = {2020}, pages = {1478-1488}, DOI = {10.1038/s41436-020-0840-3}, keywords = {genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis}, journal = {Genetics in Medicine}, doi = {10.1038/s41436-020-0840-3}, volume = {22}, number = {9}, issn = {1098-3600}, title = {genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness}, keyword = {genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis} }
@article{article, author = {T\"{o}pf, Ana and Johnson, Katherine and Bates, Adam and Phillips, Lauren and Chao, Katherine R. and England, Eleina M. and Laricchia, Kristen M. and Mullen, Thomas and Valkanas, Elise and Xu, Liwen and Bertoli, Marta and Blain, Alison and Casas\'{u}s, Ana B. and Duff, Jennifer and Mroczek, Magdalena and Specht, Sabine and Lek, Monkol and Ensini, Monica and MacArthur, Daniel G. and Akay, Ela and Alonso-P\'{e}rez, Jorge and Baets, Jonathan and Barisic, Nina and Bastian, Alexandra and Borell, Sabine and Chamova, Teodora and Claeys, Kristl and Colomer, Jaume and Coppens, Sandra and Deconinck, Nicolas and de Ridder, Willem and D\'{\i}az-Manera, Jordi and Dom\'{\i}nguez-Gonz\'{a}lez, Cristina and Duncan, Alexis and Durmus, Hacer and Fahmy, Nagia A. and Farrugia, Maria Elena and Fern\'{a}ndez-Torr\'{o}n, Roberto and Gonzalez- Quereda, Lidia and Haberlova, Jana and von der Hagen, Maja and Hahn, Andreas and Jakov\v{c}evi\'{c}, Antonia and Jerico Pascual, Ivonne and Kapetanovic, Solange and Kenina, Viktorija and Kirschner, Janbernd and Klein, Andrea and K\"{o}lbel, Heike and Kostera-Pruszczyk, Anna and Kulshrestha, Richa and L\"{a}hdetie, Jaana and Layegh, Mahsa and Longman, Cheryl and L\'{o}pez de Munain, Adolfo and Loscher, Wolfgang and Lusakowska, Anna and Maddison, Paul and Magot, Armelle and Majumdar, Anirban and Mart\'{\i}, Pilar and Mart\'{\i}nez Arroyo, Amaia and Mazanec, Radim and Mercier, Sandra and Mongini, Tiziana and Muelas, Nuria and Nascimento, Andr\'{e}s and Nafissi, Shahriar and Omidi, Shirin and Ortez, Carlos and Paquay, St\'{e}phanie and Pereon, Yann and Peri\'{c}, Stojan and Ponzalino, Valentina and Rako\v{c}evi\'{c} Stojanovi\'{c}, Vidosava and Remiche, Gauthier and Rodr\'{\i}guez Sainz, Aida and Rudnik, Sabine and Sanchez Albisua, Iciar and Santos, Manuela and Schara, Ulrike and Shatillo, Andriy and Serti\'{c}, Jadranka and Stephani, Ulrich and Strang- Karlsson, Sonja and Sznajer, Yves and Tanev, Ani and Tournev, Ivailo and Van den Bergh, Peter and Van Parijs, Vinciane and V\'{\i}lchez, Juan and Vill, Katharina and Vissing, John and Wallgren-Pettersson, Carina and Wanschitz, Julia and Willis, Tracey and Witting, Nanna and Zulaica, Miren and Straub, Volker}, year = {2020}, pages = {1478-1488}, DOI = {10.1038/s41436-020-0840-3}, keywords = {genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis.}, journal = {Genetics in Medicine}, doi = {10.1038/s41436-020-0840-3}, volume = {22}, number = {9}, issn = {1098-3600}, title = {genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysis}, keyword = {genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis.} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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