Background: To date, more than 100 mutations of NR5A1 have been reported; however, mutations affecting the splice site are rare, with only two reported mutations. Objective: To characterize the c.870+3_6delGAGT splice mutation of NR5A1 through molecular analyses. Results: The reverse transcription polymerase chain reaction (RT-PCR) study revealed that c.870+3_6delGAGT resulted in p.A82fs*95. Mutant NR5A1 showed a reduced transactivation on the CYP11A1 and STAR promoters without a dominant negative effect. Conclusion: To the best of our knowledge, this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.

Keywords:
NR5A1, 46,XY DSD, Splice site mutation
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© 2015 S. Karger AG, Basel
2015
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