Title:
HUMAN AUTISM SUSCEPTIBILITY GENES ENCODING A NEUROTRANSMITTER TRANSPORTER AND USES THEREOF
Document Type and Number:
WIPO Patent Application WO2006090288
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 SLC6A1 or SLC6A11 gene on chromosome 3 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 SLC6A1 or SLC6A11 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, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia.
Inventors:
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
Application Number:
PCT/IB2006/001100
Publication Date:
November 02, 2006
Filing Date:
February 27, 2006
Export Citation:
Assignee:
INTEGRAGEN SA (FR)
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2004033717A1 | 2004-04-22 | |||
| WO2000053802A1 | 2000-09-14 |
Other References:
SPENCE SARAH J: "The genetics of autism.", SEMINARS IN PEDIATRIC NEUROLOGY. SEP 2004, vol. 11, no. 3, September 2004 (2004-09-01), pages 196 - 204, XP004666241, ISSN: 1071-9091
MUHLE REBECCA ET AL: "The genetics of autism.", PEDIATRICS. MAY 2004, vol. 113, no. 5, May 2004 (2004-05-01), pages e472 - e486, XP002388697, ISSN: 1098-4275
SHASTRY B S: "Molecular genetics of autism spectrum disorders", JOURNAL OF HUMAN GENETICS, vol. 48, no. 10, 2003, pages 495 - 501, XP002315920
LAURITSEN M B ET AL: "The genetics of autism", ACTA PSYCHIATRICA SCANDINAVICA, MUNKSGAARD, COPENHAGEN, DE, vol. 103, no. 6, June 2001 (2001-06-01), pages 411 - 427, XP002358261, ISSN: 0001-690X
HUSSMAN JOHN P: "Suppressed GABAergic inhibition as a common factor in suspected etiologies of autism", JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, vol. 31, no. 2, April 2001 (2001-04-01), pages 247 - 248, XP002388698, ISSN: 0162-3257
BROOKS P ET AL: "GENOME WIDE MAPPING OF AUTISM SUSCEPTIBILITY LOCI BY ENZYMATIC SELECTION OF IDENTITY-BY-DESCENT REGIONS IN AUTISTIC SIBLING PAIRS", AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY, NEW YORK,NY, US, vol. 130B, no. 1, September 2004 (2004-09-01), pages 29, XP009058507, ISSN: 0148-7299
MUHLE REBECCA ET AL: "The genetics of autism.", PEDIATRICS. MAY 2004, vol. 113, no. 5, May 2004 (2004-05-01), pages e472 - e486, XP002388697, ISSN: 1098-4275
SHASTRY B S: "Molecular genetics of autism spectrum disorders", JOURNAL OF HUMAN GENETICS, vol. 48, no. 10, 2003, pages 495 - 501, XP002315920
LAURITSEN M B ET AL: "The genetics of autism", ACTA PSYCHIATRICA SCANDINAVICA, MUNKSGAARD, COPENHAGEN, DE, vol. 103, no. 6, June 2001 (2001-06-01), pages 411 - 427, XP002358261, ISSN: 0001-690X
HUSSMAN JOHN P: "Suppressed GABAergic inhibition as a common factor in suspected etiologies of autism", JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, vol. 31, no. 2, April 2001 (2001-04-01), pages 247 - 248, XP002388698, ISSN: 0162-3257
BROOKS P ET AL: "GENOME WIDE MAPPING OF AUTISM SUSCEPTIBILITY LOCI BY ENZYMATIC SELECTION OF IDENTITY-BY-DESCENT REGIONS IN AUTISTIC SIBLING PAIRS", AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY, NEW YORK,NY, US, vol. 130B, no. 1, September 2004 (2004-09-01), pages 29, XP009058507, ISSN: 0148-7299
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