Mutation analysis of the EMX2 gene in Kallmann's syndrome

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 idiopa thic 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, h ad no mutations noted in this gene. Conclusion: It is unlikely that EMX2 mutations are a clinically significant cause of IHH or Kallman's syndrome. (Fertil Steril(R) 1999,72:910-4. (C)19 99 by American Society for Reproductive Medicine.).