Semih BOLU, Mustafa DOĞAN, İlknur ARSLANOĞLU, Emrah GÜN, HÜSEYİN YÜCE, RECEP ERÖZ

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

SRD5A2 enzimini kodlayan SRD5A2geni kromozomun 2p23 bölgesinde yerleşir. Genin kodlayan bölgesi 254 amino asitlik bir proteine çevrilen 5 ekzon bölgesi içerir. Çalışmanın amacı, belirsiz dış genitalli vakada biyotinidaz eksikliğinin eşlik ettiği kromozom 2p23 bölgesinde yerleşen SRD5A2 enzimini kodlayan SRD5A2genini değerlendirmektir. Biz belirsiz dış genitalli bir vakayı sitogenetik ve gen mutasyonu analizi için inceledik. Gen mutasyon analizi ve sitogenetik analizler sırasıyla, PCR temelli bir standart DNA sekans metodu ve uluslararası standart terminolojiye (ISCN) göre yapıldı. Biyotinidaz eksikliğinin eşlik ettiği, SRD5A2 geninin ekzon 3'ünde yeni bir heterozigot mutasyonu pArg179Ser (c.537 G>T) tespit edildi. Kromozomal analiz sonucu 46, XY'idi. Bu biyotinidaz eksikliği olan ve 5 alfa redüktaz eksikliğine neden olan SRD5A2 geninde yeni bir mutasyon R179S p.Arg179Ser (c.537 G>T) olan ilk olgudur.

Belirsiz Dış Genitalli Bir Hastada, Biotinidaz Eksikliği Eşlik Eden SRD5A2 Geninin Ekzon 3'ünde Yeni Bir p.Arg179Ser (c.537 G> T) Heterozigot Mutasyonu

The 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.

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ISSN: 1309-3878
Yayın Aralığı: Yılda 3 Sayı
Başlangıç: 2009
Yayıncı: Düzce Üniversitesi Tıp Fakültesi Aile Hekimliği AD adına Yrd.Doç.Dr.Cemil Işık Sönmez