WO2017221040A3 - Genetic diagnostics of intellectual disability disorder, autism spectrum disorder and epilepsy - Google Patents

Genetic diagnostics of intellectual disability disorder, autism spectrum disorder and epilepsy Download PDF

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Publication number
WO2017221040A3
WO2017221040A3 PCT/HR2017/000008 HR2017000008W WO2017221040A3 WO 2017221040 A3 WO2017221040 A3 WO 2017221040A3 HR 2017000008 W HR2017000008 W HR 2017000008W WO 2017221040 A3 WO2017221040 A3 WO 2017221040A3
Authority
WO
WIPO (PCT)
Prior art keywords
disorder
epilepsy
diagnostics
autism spectrum
asd
Prior art date
Application number
PCT/HR2017/000008
Other languages
French (fr)
Other versions
WO2017221040A8 (en
WO2017221040A2 (en
Inventor
Fran BPRPVEČKI
Lukrecija BREČEVIĆ
Kristina GOTOVAC
Martina RINČIĆ
Original Assignee
Sveučilište U Zagrebu, Medicinski Fakultet
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 Sveučilište U Zagrebu, Medicinski Fakultet filed Critical Sveučilište U Zagrebu, Medicinski Fakultet
Publication of WO2017221040A2 publication Critical patent/WO2017221040A2/en
Publication of WO2017221040A3 publication Critical patent/WO2017221040A3/en
Publication of WO2017221040A8 publication Critical patent/WO2017221040A8/en

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    • 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

Landscapes

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

Abstract

This invention describes methodology of early diagnostics of developmental intellectual disorder (DID), autism spectrum disorder (ASD) and epilepsy either as a predisposition for said disorder or already developed disorder. Moreover, it describes new genetic markers linked to DID and ASD as well as diagnostic chip and methods of genetic diagnostics based on them. The invention comprises also panel of genes for diagnostics of epilepsy, that is the entire diagnostic system applicable in clinical diagnostics of DID, ASD and epilepsy.
PCT/HR2017/000008 2016-06-21 2017-06-20 Genetic diagnostics of intellectual disability disorder, autism spectrum disorder and epilepsy WO2017221040A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
HRP20160715AA HRPK20160715B3 (en) 2016-06-21 2016-06-21 Method of diagnosis of intellectual development disorders, autism spectrum disorders, epilepsy and predisposition to these disorders by gene chip and/or gene panel, as well as gene chip and gene panel used in this method
HRP20160715A 2016-06-21

Publications (3)

Publication Number Publication Date
WO2017221040A2 WO2017221040A2 (en) 2017-12-28
WO2017221040A3 true WO2017221040A3 (en) 2018-04-12
WO2017221040A8 WO2017221040A8 (en) 2018-05-24

Family

ID=59523187

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/HR2017/000008 WO2017221040A2 (en) 2016-06-21 2017-06-20 Genetic diagnostics of intellectual disability disorder, autism spectrum disorder and epilepsy

Country Status (2)

Country Link
HR (1) HRPK20160715B3 (en)
WO (1) WO2017221040A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR102210530B1 (en) * 2019-06-20 2021-02-01 메디사피엔스 주식회사 Markers for diagnosing epilepsy and uses thereof
EP4110920A1 (en) * 2020-02-27 2023-01-04 Alnylam Pharmaceuticals, Inc. G protein-coupled receptor 146 (gpr146) irna compositions and methods of use thereof

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090203014A1 (en) * 2008-01-02 2009-08-13 Children's Medical Center Corporation Method for diagnosing autism spectrum disorder
KR20090090476A (en) * 2008-02-21 2009-08-26 가톨릭대학교 산학협력단 Prediction methods for autism using copy number variation and kits by using thereof
US20120028816A1 (en) * 2009-03-31 2012-02-02 Warren Stephen T Methods and systems for screening for and diagnosing dna methylation associated with autism spectrum disorders
US20130178389A1 (en) * 2012-01-06 2013-07-11 Stanley N. Lapidus Composite assay for developmental disorders

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090203014A1 (en) * 2008-01-02 2009-08-13 Children's Medical Center Corporation Method for diagnosing autism spectrum disorder
KR20090090476A (en) * 2008-02-21 2009-08-26 가톨릭대학교 산학협력단 Prediction methods for autism using copy number variation and kits by using thereof
US20120028816A1 (en) * 2009-03-31 2012-02-02 Warren Stephen T Methods and systems for screening for and diagnosing dna methylation associated with autism spectrum disorders
US20130178389A1 (en) * 2012-01-06 2013-07-11 Stanley N. Lapidus Composite assay for developmental disorders

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
CLÉMENCE VANLERBERGHE ET AL: "15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients", EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 58, no. 3, 1 March 2015 (2015-03-01), NL, pages 140 - 147, XP055435817, ISSN: 1769-7212, DOI: 10.1016/j.ejmg.2015.01.002 *
RENAUD J ET AL: "Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus", NEUROSCIENCE, vol. 308, 12 November 2015 (2015-11-12), pages 11 - 50, XP029289244, ISSN: 0306-4522, DOI: 10.1016/J.NEUROSCIENCE.2015.08.066 *
SANDER M HOUTEN ET AL: "Genetic basis of hyperlysinemia", ORPHANET JOURNAL OF RARE DISEASES, BIOMED CENTRAL LTD, LO, vol. 8, no. 1, 9 April 2013 (2013-04-09), pages 57, XP021147235, ISSN: 1750-1172, DOI: 10.1186/1750-1172-8-57 *
SANTHOSH GIRIRAJAN ET AL: "Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder - Supplemental information", AMERICAN JOURNAL OF HUMAN GENETICS, 7 February 2013 (2013-02-07), United States, XP055436238, Retrieved from the Internet <URL:http://www.cell.com/cms/attachment/2031255656/2048407581/mmc1.pdf> [retrieved on 20171218], DOI: 10.1016/j.ajhg.2012.12.016 *
SANTHOSH GIRIRAJAN ET AL: "Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 92, no. 2, 7 February 2013 (2013-02-07), US, pages 221 - 237, XP055436235, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2012.12.016 *

Also Published As

Publication number Publication date
WO2017221040A8 (en) 2018-05-24
HRP20160715A2 (en) 2018-03-23
WO2017221040A2 (en) 2017-12-28
HRPK20160715B3 (en) 2019-08-09

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