Unusual phenotype in 35delG mutation: a case report

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dc.authorid0000-0003-1744-1710
dc.authorid0000-0003-1884-0246
dc.contributor.authorYeral, Cem
dc.contributor.authorŞeneldir, Lütfü
dc.contributor.authorKarakoç, Arzu Hediye
dc.contributor.authorŞap, Aleyna
dc.contributor.authorYılmaz, Oğuz
dc.date.accessioned2024-06-04T05:41:36Z
dc.date.available2024-06-04T05:41:36Z
dc.date.issued2024
dc.departmentİstanbul Medipol Üniversitesi, Sağlık Bilimleri Fakültesi, Odyoloji Bölümü
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Kulak Burun Boğaz Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground: Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the primary causes of prelingual nonsyndromic hearing loss in various populations. The 35delG mutation, one of the most common mutations of the GJB2 gene, usually causes prelingual, bilateral mild to profound, nonprogressive sensorineural hearing loss. Case presentation: We present an unusual case of an 18-year-old Turkish female with heterozygous 35delG mutation and postlingual, profound-sloping, progressive and fluctuating unilateral sensorineural hearing loss. The phenotype is different from the usual findings. Conclusions: The 35delG mutation causing hearing loss may not always be reflected in the phenotype as expected and therefore may have different audiologic manifestations.
dc.identifier.citationYeral, C., Şeneldir, L., Karakoç, A. H., Şap, A. ve Yılmaz, O. (2024). Unusual phenotype in 35delG mutation: a case report. Journal of Medical Case Reports, 18(1). http://dx.doi.org/10.1186/s13256-024-04559-3
dc.identifier.doi10.1186/s13256-024-04559-3
dc.identifier.issn1752-1947
dc.identifier.issue1
dc.identifier.pmid38734626
dc.identifier.scopus2-s2.0-85192693348
dc.identifier.scopusqualityQ3
dc.identifier.urihttp://dx.doi.org/10.1186/s13256-024-04559-3
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12557
dc.identifier.volume18
dc.identifier.wos001219689600001en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorŞeneldir, Lütfü
dc.institutionauthorKarakoç, Arzu Hediye
dc.institutionauthorŞap, Aleyna
dc.institutionauthorYılmaz, Oğuz
dc.language.isoen
dc.relation.ispartofJournal of Medical Case Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject35delg Mutation
dc.subjectGenetic Hearing Loss
dc.subjectGJB2
dc.subjectUnilateral Progressive Hearing Loss
dc.titleUnusual phenotype in 35delG mutation: a case report
dc.typeArticle

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