Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorEker, Damla
dc.contributor.authorGurkan, Hakan
dc.contributor.authorKaral, Yasemin
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Engin
dc.contributor.authorKarasalihoglu, Serap T.
dc.date.accessioned2024-06-12T11:03:38Z
dc.date.available2024-06-12T11:03:38Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype-phenotype correlation can be established in 15 to 30% of patients, it is difficult to obtain a correlation in most cases. Aims This study was aimed to investigate the genetic etiology in cases of peripheral hypotonia that could not be diagnosed using conventional methods. Methods A total of 18 pediatric patients with peripheral hypotonia were included. They were referred to our genetic disorders diagnosis center from the Pediatric Neurology Department with a prediagnosis of hypotonia. A custom designed multigene panel, including ACTA1 , CCDC78 , DYNC1H1 , GARS , RYR1 , COL6A1 , COL6A2 , COL6A3 , FKRP , FKTN , IGHMBP2 , LMNA , LAMA2 , LARGE1 , MTM1 , NEM , POMGnT1 , POMT1 , POMT2 , and SEPN1 , was used for genetic analysis using next-generation sequencing (NGS). Results In our study, we found 13 variants including pathogenic (two variants in LAMA2) and likely pathogenic variants (three variants in RYR1 and POMGnT1) and variants of uncertain clinical significance (eight variants in RYR1, COL6A3, COL6A2, POMGnT1 and POMT1) in 11 (61%) out of 18 patients. In one of our patients, a homozygous, likely pathogenic c.1649G > A, p.(Ser550Asn) variant was defined in the POMGnT1 gene which was associated with a muscle-eye-brain disease phenotype. Conclusion The contribution of an in-house designed gene panel in the etiology of peripheral hypotonia with a clinical diagnosis was 5.5%. An important contribution with the clinical diagnosis can be made using the targeted multigene panels in larger samples.en_US
dc.description.sponsorshipScientific Research Projects Unit of Trakya University [2018/268]en_US
dc.description.sponsorshipThis study was funded by the Scientific Research Projects Unit of Trakya University with the project number 2018/268.en_US
dc.identifier.doi10.1055/s-0042-1745873
dc.identifier.endpage207en_US
dc.identifier.issn2699-9404
dc.identifier.issue3en_US
dc.identifier.pmid35846108en_US
dc.identifier.startpage200en_US
dc.identifier.urihttps://doi.org/10.1055/s-0042-1745873
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21734
dc.identifier.volume9en_US
dc.identifier.wosWOS:000825834200001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherThieme Medical Publ Incen_US
dc.relation.ispartofGlobal Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHypotoniaen_US
dc.subjectPeripheral Hypotoniaen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectGenetic Etiologyen_US
dc.subjectMultigene Panelen_US
dc.subjectMuscular-Dystrophyen_US
dc.subjectNeonatal Hypotoniaen_US
dc.subjectFloppy Infanten_US
dc.subjectMutationsen_US
dc.subjectDiseaseen_US
dc.subjectMyopathiesen_US
dc.subjectDiagnosisen_US
dc.titleInvestigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Methoden_US
dc.typeArticleen_US

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