A Novel p.Arg179Ser (c.537 G>T) Heterozygotes Mutation on Exon 3 Of SRD5A2 Gene Accompany With Biotidinase Deficiency In Case With Ambiguous External Genitalia

Authors : Semih BOLU, Recep Eroz, Mustafa Dogan, Ilknur Arslanoglu, Emrah Gun, Huseyin Yuce

Pages : 278-282

Doi:10.18521/ktd.341688

View : 26 | Download : 13

Publication Date : 2017-09-22

Article Type : Other Papers

Abstract :The SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23. The coding region of 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 a ccompany with biotidinase deficiency in case with ambiguous external genitalia. We investigated a case with ambiguous external genitalia for cytogenetic and gene mutation analaysis. Gene mutation analaysis and cytogenetic analaysis were performed according to a standard DNA sequencing method based on PCR 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 biotidinase deficiency was detected. The chromosomal analaysis 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.
Keywords : SRD5A2, Ambiguous External Genitalia