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

Masaki Takagi¹, Noriko Nishina, Hiroko Yagi

¹Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Hormone Research in Paediatrics

|September 26, 2015

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.

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