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

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 accompany 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.