Analysis of LHX8 mutation in premature ovarian failure

Fertil Steril. 2008 Apr;89(4):1012-4. doi: 10.1016/j.fertnstert.2007.04.017. Epub 2007 Jul 10.


The LHX8 (LIM homeobox 8) gene encodes a LIM homeodomain transcriptional regulator that is preferentially expressed in germ cells and critical for mammalian oogenesis. The authors investigated whether nucleotide changes were present in the LHX8 gene of Caucasian women with premature ovarian failure (POF), as compared with control women. When the authors sequenced 95 Caucasian women with POF, they discovered two novel single-nucleotide polymorphisms (SNPs) in intron 3 (c.769+10G>T) and 3' untranslated region (c.1787A>G) of the LHX8 gene. These polymorphisms also were found in controls (n = 94), at frequencies that were not statistically different from those in POF women. Mutations in the LHX8 exons are uncommon in Caucasian women with POF.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions
  • Adult
  • Case-Control Studies
  • European Continental Ancestry Group / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Homeodomain Proteins / genetics*
  • Humans
  • Introns
  • LIM-Homeodomain Proteins
  • Mutation*
  • Polymorphism, Single Nucleotide*
  • Primary Ovarian Insufficiency / genetics*
  • Risk Factors
  • Transcription Factors


  • 3' Untranslated Regions
  • Homeodomain Proteins
  • LIM homeobox protein 8
  • LIM-Homeodomain Proteins
  • Transcription Factors