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

Year 2017, , 278 - 282, 22.09.2017

Semih Bolu , Recep Eroz , Mustafa Dogan , Ilknur Arslanoglu , Emrah Gun Huseyin Yuce

https://doi.org/10.18521/ktd.341688

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.

Keywords

SRD5A2, Ambiguous External Genitalia

References

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