Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

<h4>Background</h4>Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.<h4>Methods</h4>Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected...

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Autores principales:	Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/8803262f14874715a98b0e1a2cdd589b
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spelling	oai:doaj.org-article:8803262f14874715a98b0e1a2cdd589b2021-12-02T20:10:51ZDiagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.1932-620310.1371/journal.pone.0252953https://doaj.org/article/8803262f14874715a98b0e1a2cdd589b2021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0252953https://doaj.org/toc/1932-6203<h4>Background</h4>Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.<h4>Methods</h4>Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by sequencing on HiSeq 2500 or MiSeq platforms. Data analysis was performed using internally developed bioinformatic pipeline.<h4>Results</h4>The study comprised 86 patients, including 22 paediatric cases (26%). The largest group were patients referred with an unspecified myopathy (47%), due to non-specific or incomplete clinical and laboratory findings, followed by congenital myopathies (22%) and muscular dystrophies (22%), congenital myotonias (6%), and mitochondrial myopathies (3%). Altogether, a diagnostic yield was 52%; a high diagnostic rate was present in paediatric patients (64%), while in patients with unspecified myopathies the rate was 35%. We found 51 pathogenic/likely pathogenic variants in 23 genes and two pathogenic copy number variations.<h4>Conclusion</h4>Our results provide evidence that phenotype driven exome analysis diagnostic approach facilitates the diagnostic rate of complex, heterogeneous disorders, such as myopathies, particularly in paediatric patients and patients with unspecified myopathies.Ivana Babić BožovićAleš MaverLea LeonardisMarija MeznaricDamjan OsredkarBorut PeterlinPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 6, p e0252953 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ivana Babić Božović Aleš Maver Lea Leonardis Marija Meznaric Damjan Osredkar Borut Peterlin Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
description	<h4>Background</h4>Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.<h4>Methods</h4>Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by sequencing on HiSeq 2500 or MiSeq platforms. Data analysis was performed using internally developed bioinformatic pipeline.<h4>Results</h4>The study comprised 86 patients, including 22 paediatric cases (26%). The largest group were patients referred with an unspecified myopathy (47%), due to non-specific or incomplete clinical and laboratory findings, followed by congenital myopathies (22%) and muscular dystrophies (22%), congenital myotonias (6%), and mitochondrial myopathies (3%). Altogether, a diagnostic yield was 52%; a high diagnostic rate was present in paediatric patients (64%), while in patients with unspecified myopathies the rate was 35%. We found 51 pathogenic/likely pathogenic variants in 23 genes and two pathogenic copy number variations.<h4>Conclusion</h4>Our results provide evidence that phenotype driven exome analysis diagnostic approach facilitates the diagnostic rate of complex, heterogeneous disorders, such as myopathies, particularly in paediatric patients and patients with unspecified myopathies.
format	article
author	Ivana Babić Božović Aleš Maver Lea Leonardis Marija Meznaric Damjan Osredkar Borut Peterlin
author_facet	Ivana Babić Božović Aleš Maver Lea Leonardis Marija Meznaric Damjan Osredkar Borut Peterlin
author_sort	Ivana Babić Božović
title	Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
title_short	Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
title_full	Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
title_fullStr	Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
title_full_unstemmed	Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
title_sort	diagnostic yield of exome sequencing in myopathies: experience of a slovenian tertiary centre.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/8803262f14874715a98b0e1a2cdd589b
work_keys_str_mv	AT ivanababicbozovic diagnosticyieldofexomesequencinginmyopathiesexperienceofasloveniantertiarycentre AT alesmaver diagnosticyieldofexomesequencinginmyopathiesexperienceofasloveniantertiarycentre AT lealeonardis diagnosticyieldofexomesequencinginmyopathiesexperienceofasloveniantertiarycentre AT marijameznaric diagnosticyieldofexomesequencinginmyopathiesexperienceofasloveniantertiarycentre AT damjanosredkar diagnosticyieldofexomesequencinginmyopathiesexperienceofasloveniantertiarycentre AT borutpeterlin diagnosticyieldofexomesequencinginmyopathiesexperienceofasloveniantertiarycentre
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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

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