Title:
Human autism susceptibility gene encoding PRKCB1 and uses thereof
Document Type and Number:
WIPO Patent Application WO2006003523
Kind Code:
A3
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 PRKCB 1 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 PRKCBI 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, childhood disintegrative disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay or language impairment, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.
Inventors:
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
Application Number:
PCT/IB2005/002381
Publication Date:
May 18, 2006
Filing Date:
June 30, 2005
Export Citation:
Assignee:
INTEGRAGEN SA (FR)
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
BROOKS PETER (FR)
HAGER JOERG (FR)
International Classes:
C12Q1/68; (IPC1-7): C12Q1/68
Domestic Patent References:
| WO2004037986A2 | 2004-05-06 |
Other References:
MONACO A P: "A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p: International molecular genetic study of autism consortium, (IMGSAC)", AMERICAN JOURNAL OF HUMAN GENETICS 2001 UNITED STATES, vol. 69, no. 3, 2001, pages 570 - 581, XP002347957, ISSN: 0002-9297
KUBO K ET AL: "PRIMARY STRUCTURES OF HUMAN PROTEIN KINASE C BETAI AND BETAII DIFFER ONLY IN THEIR C-TERMINAL SEQUENCES", FEBS LETTERS, ELSEVIER, AMSTERDAM, NL, vol. 223, no. 1, October 1987 (1987-10-01), pages 138 - 142, XP001042200, ISSN: 0014-5793
PHILIPPI A ET AL: "Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism.", MOLECULAR PSYCHIATRY. OCT 2005, vol. 10, no. 10, October 2005 (2005-10-01), pages 950 - 960, XP002347958, ISSN: 1359-4184
KUBO K ET AL: "PRIMARY STRUCTURES OF HUMAN PROTEIN KINASE C BETAI AND BETAII DIFFER ONLY IN THEIR C-TERMINAL SEQUENCES", FEBS LETTERS, ELSEVIER, AMSTERDAM, NL, vol. 223, no. 1, October 1987 (1987-10-01), pages 138 - 142, XP001042200, ISSN: 0014-5793
PHILIPPI A ET AL: "Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism.", MOLECULAR PSYCHIATRY. OCT 2005, vol. 10, no. 10, October 2005 (2005-10-01), pages 950 - 960, XP002347958, ISSN: 1359-4184
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