Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1

Horm Res Paediatr. 2016;85(1):65-8. doi: 10.1159/000440862. Epub 2015 Sep 26.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Humans
  • Hypospadias / genetics*
  • Hypospadias / metabolism
  • Hypospadias / pathology
  • Male
  • Mutation*
  • RNA Splice Sites*
  • Steroidogenic Factor 1 / biosynthesis
  • Steroidogenic Factor 1 / genetics*

Substances

  • NR5A1 protein, human
  • RNA Splice Sites
  • Steroidogenic Factor 1