A novelSRD5A2mutation in an Iranian family with sex development disorder

Abstract

Disorders of sex development (DSD) are clinically and genetically heterogeneous. The patients are born with ambiguous external genitalia and abnormal chromosomal pattern (Kim & Kim, 2012). Due to the gender assignment and external genitalia corrective surgery, the precise aetiological detection of the disease is challenging. Usually, DSD diagnosis is stepwise and begins by physical examination followed by biochemical tests, imaging studies, chromosome and candidate gene analysis (

The Molecular Basis of 5α-Reductase Type 2 Deficiency

“…Recently, a 13-kb SRD5A2 deletion was reported from Iran (g.40936_53878del12943insTG). In this case, the SRD5A2 deletion occurred between introns 1 and 2, leading to exon 2 deletion [Hashemi-Gorji et al, 2021].…”

“…Mutations at these residues have been reported worldwide in individuals from several ethnicities. For example, the p.Arg246Gln variant was reported in India [Shabir et al, 2015], China [Cheng et al, 2019], Pakistan [Berra et al, 2011], Italy [Bertelloni et al, 2016], Turkey [Abacı et al, 2019], and Saudi Arabia [Alswailem et al, 2019], while the p.Gly196Ser variant was reported in Brazil [Hackel et al, 2005], Bulgaria [Andonova et al, 2017], China [Cheng et al, 2019], Italy [Baldinotti et al, 2008], Iran [Hashemi-Gorji et al, 2021], United Kingdom [Berra et al, 2011], and Turkey [Abacı et al, 2019]. However, many other SRD5A2 mutations remain from specific ethnicities, such as the p.Pro59Arg from Algeria [Deeb et al, 2016], the p.Gly183Ser from Brazil [Thigpen et al, 1992], the p.Asn160Asp from Egypt [Maimoun et al, 2011], c.188_189insTA from India [Shabir et al, 2013], c.453delC from Italy [Di Marco et al, 2013], and p.Ala65Pro from Turkey [Abacı et al, 2019].…”

“…Gross deletions are relatively rare among 5α-reductase type 2 deficiency individuals. Deletion of the almost entire SRD5A2 gene, as well as exons 1 and 2 deletions, have been reported, either in homozygosity or as a component of compound heterozygosity [Andersson et al, 1991;Fénichel et al, 2013;Deeb et al, 2016] among 5α-reductase type 2 deficiency individuals from Arab Emirates [Deeb et al, 2016], Bulgary [Andonova et al, 2017], France [Fénichel et al, 2013], Iran [Hashemi-Gorji et al, 2021], Papua New Guinea [Andersson et al, 1991], and Macedonia [Kocova et al, 2019]. Curiously, most SRD5A2 large deletions involve exon 1 or exon 2 deletion.…”