Mutation analysis of the EMX2 gene in Kallmann's syndrome

Fertil Steril. 1999 Nov;72(5):910-4. doi: 10.1016/s0015-0282(99)00376-3.


Objective: To investigate the possibility that a mutation in the human EMX2 gene may be involved in Kallmann's syndrome.

Design: In vitro experiment.

Setting: Academic Medical Center.

Patients: One hundred and twenty patients with Kallman's syndrome or idiopathic hypogonadotrophic hypogonadism (IHH).

Intervention: Peripheral blood leukocytes were used to obtain DNA.

Main outcomes measures: Single-stranded conformational polymorphism (SSCP) analysis was used to identify possible mutations of the EMX2 gene.

Results: One hundred and twenty patients with Kallmann's syndrome or IHH, had no mutations noted in this gene.

Conclusion: It is unlikely that EMX2 mutations are a clinically significant cause of IHH or Kallman's syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • DNA Mutational Analysis*
  • Female
  • Genes, Homeobox*
  • Homeodomain Proteins / genetics*
  • Humans
  • Kallmann Syndrome / genetics*
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Transcription Factors


  • Homeodomain Proteins
  • Nerve Tissue Proteins
  • Transcription Factors
  • empty spiracles homeobox proteins