Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

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dc.contributor.authorDogan, Mustafa
dc.contributor.authorAkbulut, Ekrem
dc.contributor.authorGezdirici, Alper
dc.contributor.authorEroz, Recep
dc.contributor.authorBozdogan, Sevcan Tug
dc.date.accessioned2026-06-19T06:37:59Z
dc.date.available2026-06-19T06:37:59Z
dc.date.issued2023
dc.departmentMalatya Turgut Özal Üniversitesi
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.
dc.identifier.doi10.3103/S0095452723040035
dc.identifier.endpage355
dc.identifier.issn0095-4527
dc.identifier.issn1934-9440
dc.identifier.issue4
dc.identifier.orcid0000-0003-0464-6565
dc.identifier.orcid0000-0002-7526-9835
dc.identifier.orcid0000-0003-3853-8212
dc.identifier.scopus2-s2.0-85165992668
dc.identifier.scopusqualityQ3
dc.identifier.startpage347
dc.identifier.urihttps://doi.org/10.3103/S0095452723040035
dc.identifier.urihttps://hdl.handle.net/20.500.12899/5319
dc.identifier.volume57
dc.identifier.wosWOS:001037184200007
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherPleiades Publishing Ltd
dc.relation.ispartofCytology and Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260612
dc.subjectKeywords
dc.subjectGne Myopathy
dc.subjectDistal Myopathy
dc.subjectSialic Acid
dc.subjectNonaka Disease
dc.subjectRare Diseases
dc.titleBialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype
dc.typeArticle

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