Title:
HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING OTOA AND USES THEREOF
Document Type and Number:
WIPO Patent Application WO2006003526
Kind Code:
A8
Abstract:
The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the OTOA gene on chromosome (16) and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the OTOA gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.
Inventors:
PHILLIPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
Application Number:
PCT/IB2005/002630
Publication Date:
March 02, 2006
Filing Date:
June 30, 2005
Export Citation:
Assignee:
INTEGRAGEN SA (FR)
PHILLIPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
PHILLIPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
International Classes:
C12Q1/68
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