A Novel p.Arg179Ser (c.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany with Biotinidase Deficiency in Case with Ambiguous External Genitalia

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dc.contributor.authorBolu, Semih
dc.contributor.authorEröz, Recep
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorArslanoğlu, İlknur
dc.contributor.authorGün, Emrah
dc.contributor.authorYüce, Hüseyin
dc.date.accessioned2020-04-30T22:38:47Z
dc.date.available2020-04-30T22:38:47Z
dc.date.issued2017
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000419631500017en_US
dc.description.abstractThe SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23. The gene includes 5 exons that are translated into a 254-amino acid protein. To evaluate SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23 accompany with biotinidase deficiency in case with ambiguous external genitalia. We investigated a case with ambiguous external genitalia for cytogenetic and gene mutation analysis. Gene mutation analysis and cytogenetic analysis were performed according to a standard DNA sequencing method and the present international standard nomenclature (ISCN), respectively. A Novel p.Arg179Ser (c.537 G>T) heterozygotes mutation on exon 3 of SRD5A2 gene accompany with biotinidase deficiency was detected. The chromosomal analysis result is 46, XY. This is the first case with biotinidase deficiency and novel R179S p.Arg179Ser (c.537 G>T) mutation of the SRD5A2 gene, which cause 5-alpha reductase deficiency.en_US
dc.identifier.doi10.18521/ktd.341688en_US
dc.identifier.endpage282en_US
dc.identifier.issn1309-3878
dc.identifier.issue3en_US
dc.identifier.startpage278en_US
dc.identifier.urihttps://doi.org/10.18521/ktd.341688
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2447
dc.identifier.volume9en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherDuzce Univen_US
dc.relation.ispartofKonuralp Tip Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSRD5A2en_US
dc.subjectAmbiguous External Genitaliaen_US
dc.subject5 alpha-Reductase Type 2 Deficiencyen_US
dc.titleA Novel p.Arg179Ser (c.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany with Biotinidase Deficiency in Case with Ambiguous External Genitaliaen_US
dc.typeArticleen_US

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