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
Yükleniyor...
Dosyalar
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Duzce Univ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
WOS: 000419631500017
Anahtar Kelimeler
SRD5A2, Ambiguous External Genitalia, 5 alpha-Reductase Type 2 Deficiency
Kaynak
Konuralp Tip Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
9
Sayı
3
