Title:
HUMAN AUTISM PREDISPOSITION GENE ENCODING A TRANSCRIPTION FACTOR AND USES THEREOF
Document Type and Number:
WIPO Patent Application WO2006003520
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 PITX1 gene on chromosome 5 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 PITX1 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.
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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/IB2005/002319
Publication Date:
March 02, 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:
(IPC1-7): C12Q1/68
Other References:
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SEONG E ET AL: "Mouse models for psychiatric disorders", TRENDS IN GENETICS, ELSEVIER, AMSTERDAM, NL, vol. 18, no. 12, 1 December 2002 (2002-12-01), pages 643 - 650, XP004393480, ISSN: 0168-9525
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, AMERICAN SOCIETY OF HUMAN GENETICS, CHICAGO, IL, US, vol. 69, no. 3, 2001, pages 570 - 581, XP002347957, ISSN: 0002-9297
PHILIPPE A ET AL: "Genome-wide scan for autism susceptibility genes", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 8, no. 5, May 1999 (1999-05-01), pages 805 - 812, XP002323915, ISSN: 0305-1048
TURNER M ET AL: "Genetic clues to the biological basis of autism", MOLECULAR MEDICINE TODAY, ELSEVIER, CAMBRIDGE, GB, vol. 6, no. 6, June 2000 (2000-06-01), pages 238 - 244, XP002323919, ISSN: 1357-4310
SHASTRY B S: "Molecular genetics of autism spectrum disorders", JOURNAL OF HUMAN GENETICS, vol. 48, no. 10, 2003, pages 495 - 501, XP002315920
SEONG E ET AL: "Mouse models for psychiatric disorders", TRENDS IN GENETICS, ELSEVIER, AMSTERDAM, NL, vol. 18, no. 12, 1 December 2002 (2002-12-01), pages 643 - 650, XP004393480, ISSN: 0168-9525
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, AMERICAN SOCIETY OF HUMAN GENETICS, CHICAGO, IL, US, vol. 69, no. 3, 2001, pages 570 - 581, XP002347957, ISSN: 0002-9297
PHILIPPE A ET AL: "Genome-wide scan for autism susceptibility genes", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 8, no. 5, May 1999 (1999-05-01), pages 805 - 812, XP002323915, ISSN: 0305-1048
TURNER M ET AL: "Genetic clues to the biological basis of autism", MOLECULAR MEDICINE TODAY, ELSEVIER, CAMBRIDGE, GB, vol. 6, no. 6, June 2000 (2000-06-01), pages 238 - 244, XP002323919, ISSN: 1357-4310
SHASTRY B S: "Molecular genetics of autism spectrum disorders", JOURNAL OF HUMAN GENETICS, vol. 48, no. 10, 2003, pages 495 - 501, XP002315920
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