Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/48135
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dc.contributor.authorAlbuz, Burcu-
dc.contributor.authorErdoğan, Çağdaş-
dc.contributor.authorDemiray, Aydın-
dc.contributor.authorAkca, Hakan-
dc.contributor.authorTokgun, Onur-
dc.date.accessioned2023-01-09T21:36:37Z-
dc.date.available2023-01-09T21:36:37Z-
dc.date.issued2022-
dc.identifier.issn2149-3189-
dc.identifier.urihttps://doi.org/10.18621/eurj.944842-
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/511996-
dc.identifier.urihttps://hdl.handle.net/11499/48135-
dc.description.abstractObjectives: Duchenne and Becker muscular dystrophies (DMD/BMD) are muscle diseases that show X-linked recessive inheritance. The disease occurs depending on large mutations, deletions/duplications, small mutations, point mutations and mid-intronic mutations of the gene encoding the protein called dystrophin. Therefore, in this study, we aimed to investigate the pathogenic variants of DMD in the affected family. Methods: A 23-year-old male who had weakness in the muscles, difficulty climbing the stairs, frequent falls at the age of seven was referred to the Medical Genetics department for an initial diagnosis of DMD/BMD. His siblings also suffered from similar symptoms. Therefore, eight individuals from the same family were included in the study. MLPA analysis was performed to evaluate deletion/duplication and variants of the DMD gene were evaluated by targeted NGS. Sophia DDM algorithms were used for the bioinformatics analysis of data, and the pathogenicity of the mutations was evaluated based on in silico prediction tools. Results: Allelic variants were identified in 8 individuals of the family including two suspected patients and six suspected obligatory carriers. NGS analysis revealed that proband and his nephew were hemizygous for pathogenic c.10018T> C (p.Cys3340Arg, C3340R) mutation and mother, two sisters and niece were carriers. Conclusions: C3340R mutation was first reported in a Taiwanese BMD patient among the 23 different pathologic changes. This variant identified as pathogenic because of being highly conserved cysteine substitution in the dystroglycan-binding domain of dystrophin. This study has the importance of reporting an infrequent pathogenic mutation, C3340R, in two patients and four suspected obligatory carriers of a Turkish family. en_US
dc.language.isoenen_US
dc.relation.ispartofThe European Research Journalen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectmultiplex ligation-dependent probe amplificationen_US
dc.subjectpathogenicen_US
dc.subjectnext-generation sequencingen_US
dc.subjectDuchenne muscular dystrophyen_US
dc.titleA rare missense Duchenne muscular dystrophy gene variant in a family with muscular dystrophy from Turkeyen_US
dc.typeArticleen_US
dc.identifier.volume8en_US
dc.identifier.issue2en_US
dc.identifier.startpage225en_US
dc.identifier.endpage231en_US
dc.departmentPAUen_US
dc.identifier.doi10.18621/eurj.944842-
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.trdizinid511996en_US
item.languageiso639-1en-
item.fulltextWith Fulltext-
item.openairetypeArticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.grantfulltextopen-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:Tıp Fakültesi Koleksiyonu
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
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