Title:
COMPOSITIONS AND METHODS FOR DIAGNOSING AUTISM SPECTRUM DISORDERS
Document Type and Number:
WIPO Patent Application WO/2011/031786
Kind Code:
A3
Abstract:
The invention generally relates to compositions and methods for diagnosing autism spectrum disorders. In certain embodiments, the invention provides a method for diagnosing presence or increased risk of developing an autism spectrum disorder in a subject.
Inventors:
MARGULIES DAVID MICHAEL (US)
BEAR MARK FIRMAN (US)
BEAR MARK FIRMAN (US)
Application Number:
PCT/US2010/048164
Publication Date:
July 07, 2011
Filing Date:
September 08, 2010
Export Citation:
Assignee:
LAB CORP AMERICA HOLDINGS (US)
MARGULIES DAVID MICHAEL (US)
BEAR MARK FIRMAN (US)
MARGULIES DAVID MICHAEL (US)
BEAR MARK FIRMAN (US)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2009043178A1 | 2009-04-09 | |||
| WO2009144480A1 | 2009-12-03 | |||
| WO2008124187A1 | 2008-10-16 |
Foreign References:
| US20070141577A1 | 2007-06-21 | |||
| US6326483B1 | 2001-12-04 |
Other References:
NEVES-PEREIRA M ET AL: "Deregulation of EIF4E: a novel mechanism for autism", JOURNAL OF MEDICAL GENETICS, vol. 46, no. 11, 25 June 2009 (2009-06-25) - November 2009 (2009-11-01), pages 759 - 765 URL, XP008132468, DOI: 10.1136/jmg.2009.066852
NORTON N ET AL: "Mutation screening of the Homer gene family and association analysis in schizophrenia.", AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 120B, no. 1, 1 July 2003 (2003-07-01), pages 18 - 21, XP002633211, ISSN: 0148-7299
LEWIS J C ET AL: "Genotype and psychological phenotype in tuberous sclerosis.", JOURNAL OF MEDICAL GENETICS, vol. 41, no. 3, March 2004 (2004-03-01), pages 203 - 207, XP002633212, ISSN: 0022-2593
RENDTORFF NANNA D ET AL: "Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations", HUMAN MUTATION, vol. 26, no. 4, October 2005 (2005-10-01), pages 374 - 383, XP002633213, ISSN: 1059-7794
SERAJEE F J ET AL: "Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.", JOURNAL OF MEDICAL GENETICS NOV 2003 LNKD- PUBMED:14627686, vol. 40, no. 11, November 2003 (2003-11-01), pages E119, XP008135539, ISSN: 1468-6244
MICHAELIS R C ET AL: "Tuberous sclerosis 2 (TSC2) gene variants in patients with autism and seizures.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 73, no. 5, November 2003 (2003-11-01), & 53RD ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; LOS ANGELES, CA, USA; NOVEMBER 04-08, 2003, pages 538, XP008135540, ISSN: 0002-9297
NORTON N ET AL: "Mutation screening of the Homer gene family and association analysis in schizophrenia.", AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 120B, no. 1, 1 July 2003 (2003-07-01), pages 18 - 21, XP002633211, ISSN: 0148-7299
LEWIS J C ET AL: "Genotype and psychological phenotype in tuberous sclerosis.", JOURNAL OF MEDICAL GENETICS, vol. 41, no. 3, March 2004 (2004-03-01), pages 203 - 207, XP002633212, ISSN: 0022-2593
RENDTORFF NANNA D ET AL: "Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations", HUMAN MUTATION, vol. 26, no. 4, October 2005 (2005-10-01), pages 374 - 383, XP002633213, ISSN: 1059-7794
SERAJEE F J ET AL: "Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.", JOURNAL OF MEDICAL GENETICS NOV 2003 LNKD- PUBMED:14627686, vol. 40, no. 11, November 2003 (2003-11-01), pages E119, XP008135539, ISSN: 1468-6244
MICHAELIS R C ET AL: "Tuberous sclerosis 2 (TSC2) gene variants in patients with autism and seizures.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 73, no. 5, November 2003 (2003-11-01), & 53RD ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; LOS ANGELES, CA, USA; NOVEMBER 04-08, 2003, pages 538, XP008135540, ISSN: 0002-9297
Attorney, Agent or Firm:
CALKINS, Charles, W. et al. (1001 West Fourth StreetWinston-Salem, North Carolina, US)
Download PDF: