Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis a...

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Published in:	Journal of clinical medicine Vol. 11; no. 10; p. 2750
Main Authors:	Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 12-05-2022 MDPI
Subjects:	Clinical medicine Congenital diseases Disease Gene expression Kinases Laboratories Muscular dystrophy Myasthenia gravis Patients myopathy next-generation sequencing Phenomizer neuromuscular disorders
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Abstract	Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4-6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, , , and , accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield.
AbstractList	Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4–6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, TTN , RYR1 , and ANO5 , accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield. Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4-6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, , , and , accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield. Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4–6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, TTN, RYR1, and ANO5, accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield.
Author	Camacho Salas, Ana Hermida-Ameijeiras, Álvaro Domínguez-González, Cristina Couce, Maria Luz Barbosa-Gouveia, Sofia Fineza, Isabel Sánchez-Pintos, Paula Negrão, Luis de Castro, Maria José León, Soraya Ramiro González-Vioque, Emiliano Laranjeira, Francisco Gil-Fournier, Belén Vázquez-Mosquera, Maria Eugenia
AuthorAffiliation	3 Department of Clinical Biochemistry, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain; egvioque@gmail.com 10 Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, 4050-466 Porto, Portugal; francisco.laranjeira@chporto.min-saude.pt 4 Genetics Department, Hospital Universitario de Getafe, 28905 Madrid, Spain; soraya.ramiroleon@salud.madrid.org (S.R.L.); belen.gilfournier@salud.madrid.org (B.G.-F.) 5 Neuromuscular Unit, Imas12 Research Institute, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain; cdgonzalez@salud.madrid.org 9 Pediatric Neurology Department, Child Developmental Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal, 3000-075 Coimbra, Portugal; ifineza@gmail.com 6 Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain 2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute
AuthorAffiliation_xml	– name: 3 Department of Clinical Biochemistry, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain; egvioque@gmail.com – name: 7 Pediatric Neurology Unit, Hospital Universitario 12 de Octubre, Complutense University of Madrid, 28041 Madrid, Spain; acamacho@salud.madrid.org – name: 8 Neuromuscular Diseases Unit, Neurology Service, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal; luisnegraoster@gmail.com – name: 10 Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, 4050-466 Porto, Portugal; francisco.laranjeira@chporto.min-saude.pt – name: 6 Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain – name: 2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain – name: 4 Genetics Department, Hospital Universitario de Getafe, 28905 Madrid, Spain; soraya.ramiroleon@salud.madrid.org (S.R.L.); belen.gilfournier@salud.madrid.org (B.G.-F.) – name: 9 Pediatric Neurology Department, Child Developmental Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal, 3000-075 Coimbra, Portugal; ifineza@gmail.com – name: 5 Neuromuscular Unit, Imas12 Research Institute, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain; cdgonzalez@salud.madrid.org – name: 1 Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain; maria.eugenia.vazquez.mosquera@sergas.es (M.E.V.-M.); alvaro.hermida@usc.es (Á.H.-A.); paula.sanchez.pintos@sergas.es (P.S.-P.); mj.decastrol@gmail.com (M.J.d.C.)
Author_xml	– sequence: 1 givenname: Sofia orcidid: 0000-0003-1431-4644 surname: Barbosa-Gouveia fullname: Barbosa-Gouveia, Sofia organization: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain – sequence: 2 givenname: Maria Eugenia orcidid: 0000-0003-3167-5919 surname: Vázquez-Mosquera fullname: Vázquez-Mosquera, Maria Eugenia organization: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain – sequence: 3 givenname: Emiliano surname: González-Vioque fullname: González-Vioque, Emiliano organization: Department of Clinical Biochemistry, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain – sequence: 4 givenname: Álvaro orcidid: 0000-0003-3757-262X surname: Hermida-Ameijeiras fullname: Hermida-Ameijeiras, Álvaro organization: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain – sequence: 5 givenname: Paula orcidid: 0000-0003-4992-1305 surname: Sánchez-Pintos fullname: Sánchez-Pintos, Paula organization: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain – sequence: 6 givenname: Maria José surname: de Castro fullname: de Castro, Maria José organization: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain – sequence: 7 givenname: Soraya Ramiro surname: León fullname: León, Soraya Ramiro organization: Genetics Department, Hospital Universitario de Getafe, 28905 Madrid, Spain – sequence: 8 givenname: Belén surname: Gil-Fournier fullname: Gil-Fournier, Belén organization: Genetics Department, Hospital Universitario de Getafe, 28905 Madrid, Spain – sequence: 9 givenname: Cristina orcidid: 0000-0001-5151-988X surname: Domínguez-González fullname: Domínguez-González, Cristina organization: Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain – sequence: 10 givenname: Ana surname: Camacho Salas fullname: Camacho Salas, Ana organization: Pediatric Neurology Unit, Hospital Universitario 12 de Octubre, Complutense University of Madrid, 28041 Madrid, Spain – sequence: 11 givenname: Luis surname: Negrão fullname: Negrão, Luis organization: Neuromuscular Diseases Unit, Neurology Service, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal – sequence: 12 givenname: Isabel surname: Fineza fullname: Fineza, Isabel organization: Pediatric Neurology Department, Child Developmental Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal, 3000-075 Coimbra, Portugal – sequence: 13 givenname: Francisco surname: Laranjeira fullname: Laranjeira, Francisco organization: Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, 4050-466 Porto, Portugal – sequence: 14 givenname: Maria Luz orcidid: 0000-0003-4861-9905 surname: Couce fullname: Couce, Maria Luz organization: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain
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Keywords	myopathy next-generation sequencing Phenomizer neuromuscular disorders
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Snippet	Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268...
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SubjectTerms	Clinical medicine Congenital diseases Disease Gene expression Kinases Laboratories Muscular dystrophy Myasthenia gravis Patients
Title	Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
URI	https://www.ncbi.nlm.nih.gov/pubmed/35628876 https://www.proquest.com/docview/2670194021 https://search.proquest.com/docview/2671269131 https://pubmed.ncbi.nlm.nih.gov/PMC9143479
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