title: Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.forename: Noriko
authors.initials: N
authors.lastname: Nishina
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yagi
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa
mesh_terms: D000328:Adult; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites; D054339:Steroidogenic Factor 1 / Q000096:biosynthesis / Q000235:genetics*
chemical_list: C515057:NR5A1 protein, human; D022821:RNA Splice Sites; D054339:Steroidogenic Factor 1