Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorWINCKLER, Pablo Brea
dc.contributor.authorCHWAL, Bruna Cristine
dc.contributor.authorSANTOS, Marco Antonnio Rocha Dos
dc.contributor.authorBURGUEZ, Daniela
dc.contributor.authorPOLESE-BONATTO, Marcia
dc.contributor.authorZANOTELI, Edmar
dc.contributor.authorSIEBERT, Marina
dc.contributor.authorVAIRO, Filippo Pinto e
dc.contributor.authorCHAVES, Marcia Lorena Fagundes
dc.contributor.authorSAUTE, Jonas Alex Morales
dc.date.accessioned2022-08-12T17:10:53Z
dc.date.available2022-08-12T17:10:53Z
dc.date.issued2022
dc.description.abstractGenetic testing is being considered the first-step in the investigation of hereditary myopathies. However, the performance of the different testing approaches is little known. The aims of the present study were to evaluate the diagnostic yield of a next-generation sequencing panel comprising 39 genes as the first-tier test for genetic myopathies diagnosis and to characterize clinical and molecular findings of families from southern Brazil. Fifty-one consecutive index cases with clinical suspicion of genetic myopathies were recruited from October 2014 to March 2018 in a cross-sectional study. The overall diagnostic yield of the next-generation sequencing panel was 52.9%, increasing to 60.8% when including cases with candidate variants. Multi-gene panel solved the diagnosis of 12/25 (48%) probands with limb-girdle muscular dystrophies, of 7/14 (50%) with congenital muscular diseases, and of 7/10 (70%) with muscular dystrophy with prominent joint contractures. The most frequent diagnosis for limb-girdle muscular dystrophies were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related; for congenital muscular diseases, RYR1-related-disorders; and for muscular dystrophy with prominent joint contractures, Emery-Dreifuss-muscular-dystrophy-type-1 and COL6A1-related-disorders. In summary, the customized next-generation sequencing panel when applied in the initial investigation of genetic myopathies results in high diagnostic yield, likely reducing patient's diagnostic odyssey and providing important information for genetic counseling and participation in disease-specific clinical trials.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipFundo de Incentivo a Pesquisa e Eventos-HCPA [17-0340]
dc.description.sponsorshipPTC Therapeutics
dc.identifier.citationNEUROLOGICAL SCIENCES, v.43, n.7, p.4473-4481, 2022
dc.identifier.doi10.1007/s10072-022-05934-y
dc.identifier.eissn1590-3478
dc.identifier.issn1590-1874
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/48456
dc.language.isoeng
dc.publisherSPRINGER-VERLAG ITALIA SRLeng
dc.relation.ispartofNeurological Sciences
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright SPRINGER-VERLAG ITALIA SRLeng
dc.subjectDiagnosiseng
dc.subjectNext generation sequencingeng
dc.subjectMuscular dystrophyeng
dc.subjectHereditary myopathyeng
dc.subject.otherclinical-featureseng
dc.subject.otherprevalenceeng
dc.subject.othervariantseng
dc.subject.othergenomicseng
dc.subject.wosClinical Neurologyeng
dc.subject.wosNeuroscienceseng
dc.titleDiagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathieseng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryisous
hcfmusp.author.externalWINCKLER, Pablo Brea:Univ Fed Rio Grande Sul UFRGS, Grad Program Med Med Sci, Porto Alegre, RS, Brazil; Hosp Clin Porto Alegre HCPA, Neurol Div, Porto Alegre, RS, Brazil
hcfmusp.author.externalCHWAL, Bruna Cristine:HCPA, Med Genet Div, Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil
hcfmusp.author.externalSANTOS, Marco Antonnio Rocha Dos:Univ Fed Rio Grande Sul UFRGS, Grad Program Med Med Sci, Porto Alegre, RS, Brazil; Hosp Clin Porto Alegre HCPA, Neurol Div, Porto Alegre, RS, Brazil
hcfmusp.author.externalBURGUEZ, Daniela:HCPA, Med Genet Div, Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil
hcfmusp.author.externalPOLESE-BONATTO, Marcia:HCPA, Med Genet Div, Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil
hcfmusp.author.externalSIEBERT, Marina:Univ Fed Rio Grande Sul UFRGS, Grad Program Sci Gastroenterol & Hepatol, Porto Alegre, RS, Brazil; Hosp Clin Porto Alegre HCPA, Expt Res Ctr, Unit Lab Res, Porto Alegre, RS, Brazil; Hosp Clin Porto Alegre HCPA, Expt Res Ctr, BRAIN Basic Res & Adv Invest Neurosci Lab, Porto Alegre, RS, Brazil
hcfmusp.author.externalVAIRO, Filippo Pinto e:Mayo Clin, Ctr Individualized Med, Rochester, MN USA; Mayo Clin, Dept Clin Genom, Rochester, MN USA
hcfmusp.author.externalCHAVES, Marcia Lorena Fagundes:Univ Fed Rio Grande Sul UFRGS, Grad Program Med Med Sci, Porto Alegre, RS, Brazil; Hosp Clin Porto Alegre HCPA, Neurol Div, Porto Alegre, RS, Brazil; Univ Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, Brazil
hcfmusp.author.externalSAUTE, Jonas Alex Morales:Univ Fed Rio Grande Sul UFRGS, Grad Program Med Med Sci, Porto Alegre, RS, Brazil; Hosp Clin Porto Alegre HCPA, Neurol Div, Porto Alegre, RS, Brazil; HCPA, Med Genet Div, Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil; Univ Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, Brazil
hcfmusp.citation.scopus3
hcfmusp.contributor.author-fmusphcEDMAR ZANOTELI
hcfmusp.description.beginpage4473
hcfmusp.description.endpage4481
hcfmusp.description.issue7
hcfmusp.description.volume43
hcfmusp.origemWOS
hcfmusp.origem.pubmed35175440
hcfmusp.origem.scopus2-s2.0-85124717662
hcfmusp.origem.wosWOS:000757175000001
hcfmusp.publisher.cityMILANeng
hcfmusp.publisher.countryITALYeng
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