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WO2006003526A3 - Human autism susceptibility gene encoding otoa and uses thereof - Google Patents

Human autism susceptibility gene encoding otoa and uses thereof Download PDF

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Publication number
WO2006003526A3
WO2006003526A3 PCT/IB2005/002630 IB2005002630W WO2006003526A3 WO 2006003526 A3 WO2006003526 A3 WO 2006003526A3 IB 2005002630 W IB2005002630 W IB 2005002630W WO 2006003526 A3 WO2006003526 A3 WO 2006003526A3
Authority
WO
WIPO (PCT)
Prior art keywords
otoa
gene
autism
diagnosis
prevention
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Ceased
Application number
PCT/IB2005/002630
Other languages
French (fr)
Other versions
WO2006003526A2 (en
WO2006003526A8 (en
Inventor
Anne Philippi
Francis Rousseau
Peter Brooks
Joerg Hager
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
IntegraGen SA
Original Assignee
IntegraGen SA
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by IntegraGen SA filed Critical IntegraGen SA
Publication of WO2006003526A2 publication Critical patent/WO2006003526A2/en
Publication of WO2006003526A8 publication Critical patent/WO2006003526A8/en
Publication of WO2006003526A3 publication Critical patent/WO2006003526A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

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.
PCT/IB2005/002630 2004-07-01 2005-06-30 Human autism susceptibility gene encoding otoa and uses thereof Ceased WO2006003526A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US58412704P 2004-07-01 2004-07-01
US60/584,127 2004-07-01

Publications (3)

Publication Number Publication Date
WO2006003526A2 WO2006003526A2 (en) 2006-01-12
WO2006003526A8 WO2006003526A8 (en) 2006-03-02
WO2006003526A3 true WO2006003526A3 (en) 2006-06-15

Family

ID=35429403

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2005/002630 Ceased WO2006003526A2 (en) 2004-07-01 2005-06-30 Human autism susceptibility gene encoding otoa and uses thereof

Country Status (1)

Country Link
WO (1) WO2006003526A2 (en)

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
BARNBY GABRIELLE ET AL: "Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: Evidence of association at GRIN2A and ABAT", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 76, no. 6, June 2005 (2005-06-01), pages 950 - 966, XP002358259, ISSN: 0002-9297 *
CRAWFORD L ET AL: "Fine-scale SNP genotyping for Autism using Single Base Extension and tag arrays", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 69, no. 4 Supplement, October 2001 (2001-10-01), & 51ST ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; SAN DIEGO, CALIFORNIA, USA; OCTOBER 12-16, 2001, pages 508, XP002358258, ISSN: 0002-9297 *
CRAWFORD L R ET AL: "THE CHARACTERIZATION AND GENOTYPING OF SINGLE NUCLEOTIDE POLYMORPHISMS IN CODING REGIONS OF BRAIN-EXPRESSED AUTISM CANDIDATE GENES", AMERICAN JOURNAL OF HUMAN GENETICS, AMERICAN SOCIETY OF HUMAN GENETICS, CHICAGO, IL, US, vol. 67, no. 4, SUPPL 2, October 2000 (2000-10-01), pages 351, XP001098557, ISSN: 0002-9297 *
DANIELS RACHAEL J ET AL: "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16", HUMAN MOLECULAR GENETICS, vol. 10, no. 4, 15 February 2001 (2001-02-15), pages 339 - 352, XP002358255, ISSN: 0964-6906 *
INTERNATIONAL MOLECULAR GENETIC STUDY OF AUTISM CONSORTIUM (IMGSAC): "A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 69, no. 3, September 2001 (2001-09-01), pages 570 - 581, XP002358256, ISSN: 0002-9297 *
LAURITSEN M B ET AL: "The genetics of autism", ACTA PSYCHIATRICA SCANDINAVICA, vol. 103, no. 6, June 2001 (2001-06-01), pages 411 - 427, XP002358261, ISSN: 0001-690X *
SMALLEY SUSAN L ET AL: "Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 71, no. 4, October 2002 (2002-10-01), pages 959 - 963, XP002358257, ISSN: 0002-9297 *
ZWAENEPOEL INGRID ET AL: "Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 99, no. 9, 30 April 2002 (2002-04-30), pages 6240 - 6245, XP002358260, ISSN: 0027-8424 *

Also Published As

Publication number Publication date
WO2006003526A2 (en) 2006-01-12
WO2006003526A8 (en) 2006-03-02

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