Elsevier

Fertility and Sterility

Volume 72, Issue 5, November 1999, Pages 910-914
Fertility and Sterility

Reproductive Endocrinology
Mutation analysis of the EMX2 gene in Kallmann’s syndrome

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Abstract

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.

Keywords

Kallman’s syndrome
hypogonadism
gonadotropin
idiopathic hypogonadotrophic hypogonadism
EMX genes
EMX2
homeobox genes
genetics
SSCP analysis

Cited by (0)

Supported by grants from the National Institute of Child Health and Human Development HD36887 (Hugh S. Taylor) and HD33004 (Lawrence C. Layman) and by a grant from the American Society for Reproductive Medicine (Hugh S. Taylor).

Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut.

IVF and Genetics Institute, Fairfax, Virginia.

Department of Obstetrics and Gynecology, University of Chicago School of Medicine, Chicago, Illinois.