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.


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.
Taylor
H S
HS
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut, USA. Hugh.Taylor@Yale.edu
Block
K
K
Bick
D P
DP
Sherins
R J
RJ
Layman
L C
LC
Shering
R J
RJ
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
D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins