Mutation analysis of the EMX2 gene in Kallmann's syndrome

Hugh S. Taylor, Karen Block, David P. Bick, Richard J. Shering, Lawrence C. Layman

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)910-914
Number of pages5
JournalFertility and sterility
Issue number5
StatePublished - Nov 1999
Externally publishedYes


  • EMX genes
  • EMX2
  • Genetics
  • Gonadotropin
  • Homeobox genes
  • Hypogonadism
  • Idiopathic hypogonadotrophic hypogonadism
  • Kallman's syndrome
  • SSCP analysis

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology


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