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Updated: Jul 27, 2026
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Mutation analysis of the EMX2 gene in Kallmann's syndrome
H S Taylor1, K Block, D P Bick
1Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut, USA. Hugh.Taylor@Yale.edu
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.
