title: Mutation analysis of the EMX2 gene in Kallmann's syndrome.
abstract: OBJECTIVE
  To investigate the possibility that a mutation in the human EMX2 gene may be involved in Kallmann's syndrome.
  
  
  METHODS
  In vitro experiment.
  
  
  METHODS
  Academic Medical Center.
  
  
  METHODS
  One hundred and twenty patients with Kallman's syndrome or idiopathic hypogonadotrophic hypogonadism (IHH).
  
  
  METHODS
  Peripheral blood leukocytes were used to obtain DNA.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  It is unlikely that EMX2 mutations are a clinically significant cause of IHH or Kallman's syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut, USA. Hugh.Taylor@Yale.edu
authors.forename: H S
authors.initials: HS
authors.lastname: Taylor
authors.forename: K
authors.initials: K
authors.lastname: Block
authors.forename: D P
authors.initials: DP
authors.lastname: Bick
authors.forename: R J
authors.initials: RJ
authors.lastname: Sherins
authors.forename: L C
authors.initials: LC
authors.lastname: Layman
authors.forename: R J
authors.initials: RJ
authors.lastname: Shering
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D005260:Female; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins