NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

Clin Genet. 2016 May;89(5):608-13. doi: 10.1111/cge.12750. Epub 2016 Mar 4.

Abstract

Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem. The sequencing of BMP15 and GDF9 gene revealed only previously reported variants. In contrast to previous studies, the prevalence of BMP15 variations is not higher than in the control population. Conversely, 6.4% of the cases present a NOBOX mutations; this high prevalence strengthens the consideration of NOBOX gene as strong autosomal candidate for POI.

Keywords: BMP15; GDF9; NOBOX; primary ovarian insufficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data
  • Genotype
  • Homeodomain Proteins / genetics*
  • Humans
  • Mutation, Missense*
  • Prevalence
  • Primary Ovarian Insufficiency / diagnosis
  • Primary Ovarian Insufficiency / epidemiology
  • Primary Ovarian Insufficiency / genetics*
  • Transcription Factors / genetics*
  • Tunisia / epidemiology

Substances

  • Homeodomain Proteins
  • NOBOX protein, human
  • Transcription Factors