2013
DOI: 10.1515/jpem-2012-0316
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Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias

Abstract: In Chinese patients, SRD5A2 gene mutations were, relatively, frequently associated with hypospadias. The SF-1 gene may be another candidate gene for hypospadias. In contrast, AR gene mutations are not commonly associated with this condition.

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Cited by 5 publications
(4 citation statements)
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“…To date, over 130 different mutations throughout the five exons of SRD5A2 have been reported (Human Gene Mutation Database, http://www.hgmd.cf.ac.uk/ac/validate.php). In our study, mutations in SRD5A2 were the most common among those of the genes that were screened (52%, 13/25); this finding was consistent with that of previous study conducted in China (R. Wang et al, ). These observations suggest that the SRD5A2 is a hotspot for gene mutations in Han Chinese individuals with hypospadias.…”
Section: Discussionsupporting
confidence: 93%
“…To date, over 130 different mutations throughout the five exons of SRD5A2 have been reported (Human Gene Mutation Database, http://www.hgmd.cf.ac.uk/ac/validate.php). In our study, mutations in SRD5A2 were the most common among those of the genes that were screened (52%, 13/25); this finding was consistent with that of previous study conducted in China (R. Wang et al, ). These observations suggest that the SRD5A2 is a hotspot for gene mutations in Han Chinese individuals with hypospadias.…”
Section: Discussionsupporting
confidence: 93%
“…Like HSD17B3, mutations in SRD5A2 can lead to a variety of phenotypes [Akcay et al, 2014], and the role of SRD5A2 in 46,XY DSD has been studied for almost 40 years. Indeed, various mutations in this gene have been linked with an increased risk of hypospadias [Silver and Russell, 1999; Wang et al, 2004; Samtani et al, 2011; Wang R et al, 2013; Carmichael et al, 2014] and one hypospadias-associated variant, the SRD5A2 V89L polymorphism, is less active in vitro [Thai et al, 2005]. Differences in the activity of SRD5A2 variants may explain why some are associated with hypospadias [Silver and Russell, 1999], while others are reported to reduce the risk of both mild and severe hypospadias [Thai et al, 2005] (tables 1, 2).…”
Section: Androgens and Hypospadiasmentioning
confidence: 99%
“…Significant increase of CAG repeats [18,29] and no significant differences [20,21]. Mutations associated [17,32] and no mutations identified [21,33,34].…”
Section: New Promising Molecular Approachesmentioning
confidence: 91%
“…Mutations associated with the condition were identified [41,48]. Pathogenic mutations found [34,35].…”
Section: New Promising Molecular Approachesmentioning
confidence: 99%