BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

Am J Obstet Gynecol. 2008 Jan;198(1):84.e1-5. doi: 10.1016/j.ajog.2007.05.029. Epub 2007 Sep 12.

Abstract

Objective: Premature ovarian failure (POF) is a heterogeneous group of diseases with amenorrhea before the age of 40 years and elevated gonadotropins. Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 (BMP15) have been identified as a possible cause of ovarian failure.

Study design: Molecular analysis of BMP15, growth differentiation factor-9 (GDF9), and follicle-stimulating hormone receptor (FSHR) in patients with ovarian failure.

Results: We can show that a BMP15 alteration, previously described as a mutation, is instead a polymorphism. A digenic inheritance of POF including BMP15 and FSHR is unlikely. Mutations in GDF9 could not be detected.

Conclusion: Caution is recommended in the interpretation of BMP15 mutations in the context of POF.

MeSH terms

  • Adult
  • Base Sequence
  • Bone Morphogenetic Protein 15
  • Case-Control Studies
  • Female
  • Gene Expression Regulation, Developmental
  • Genetic Predisposition to Disease*
  • Gonadal Dysgenesis, 46,XX / diagnosis
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Growth Differentiation Factor 9
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Primary Ovarian Insufficiency / diagnosis
  • Primary Ovarian Insufficiency / genetics*
  • Receptors, FSH / genetics
  • Reference Values
  • Sensitivity and Specificity
  • Severity of Illness Index

Substances

  • BMP15 protein, human
  • Bone Morphogenetic Protein 15
  • GDF9 protein, human
  • Growth Differentiation Factor 9
  • Intercellular Signaling Peptides and Proteins
  • Receptors, FSH