Bialelic pathogenic (c.830g>a(p.r277q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype

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dc.authoriddogan, mustafa/0000-0003-0464-6565en_US
dc.authoridAKBULUT, EKREM/0000-0002-7526-9835en_US
dc.authoridtug bozdogan, sevcan/0000-0003-3853-8212en_US
dc.authorscopusid57208892891en_US
dc.authorscopusid6506274451en_US
dc.authorscopusid54901937600en_US
dc.authorscopusid34868115100en_US
dc.authorscopusid15829151500en_US
dc.authorwosidGezdirici, Alper/W-8459-2018en_US
dc.authorwosidEroz, Recep/HFZ-9751-2022en_US
dc.contributor.authorDogan, Mustafa
dc.contributor.authorAkbulut, Ekrem
dc.contributor.authorGezdirici, Alper
dc.contributor.authorEroz, Recep
dc.contributor.authorBozdogan, Sevcan Tug
dc.date.accessioned2024-08-23T16:03:39Z
dc.date.available2024-08-23T16:03:39Z
dc.date.issued2023en_US
dc.departmentDüzce Üniversitesien_US
dc.description.abstractNonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually preserves the quadriceps and presents with bilateral foot drop, usually caused by anterior tibialis weakness. In patients with Nonaka myopathy, serum creatine kinases are slightly elevated, muscle weakness progresses slowly, and ambulation loss develops after 15-20 yr. The current study aims to raise awareness of Nonaka myopathy that occurs as a rare phenotype due to pathogenic variants in GNE gene. Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family were done by Sanger sequencing. Also the homology model of the mutant protein was created with the ProMod3 algorithm. We identified a bialelic pathogenic variant (c.830G>A) in GNE gene, which explain the patients' clinical status. We present the main findings of two siblings with Nonaka myopathy together with detailed clinical and genetic profiles of the patients together with a three-dimensional mutant GNE protein model. We think that the clinical characteristics and the effect of the (c.830G>A) variant will facilitate our understanding of GNE gene in Nonaka myopathy pathogenesis.en_US
dc.identifier.doi10.3103/S0095452723040035
dc.identifier.endpage355en_US
dc.identifier.issn0095-4527
dc.identifier.issn1934-9440
dc.identifier.issue4en_US
dc.identifier.scopus2-s2.0-85165992668en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage347en_US
dc.identifier.urihttps://doi.org/10.3103/S0095452723040035
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13854
dc.identifier.volume57en_US
dc.identifier.wosWOS:001037184200007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherPleiades Publishing Incen_US
dc.relation.ispartofCytology And Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectKeywordsen_US
dc.subjectGNE myopathyen_US
dc.subjectdistal myopathyen_US
dc.subjectsialic aciden_US
dc.subjectNonaka diseaseen_US
dc.subjectrare diseasesen_US
dc.subjectAcetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinaseen_US
dc.subjectAcid Biosynthesisen_US
dc.subjectMutationsen_US
dc.subjectExpressionen_US
dc.subjectServeren_US
dc.subjectWeben_US
dc.titleBialelic pathogenic (c.830g>a(p.r277q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotypeen_US
dc.typeArticleen_US

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