Title:
SET OF PATHOGENIC GENES FOR MENTAL RETARDATION AND ADVANCED COGNITIVE IMPAIRMENT AND DETECTION PRIMER AND KIT THEREFOR
Document Type and Number:
WIPO Patent Application WO/2020/015387
Kind Code:
A1
Abstract:
A set of pathogenic genes for mental retardation and advanced cognitive impairment and a detection primer and kit therefor. The set of pathogenic genes comprises mutant SLC16A2, KIF4A, MED15, and FAM83G genes and 5 structural variant genes, namely CT55, DTX2P1-UPK3BP1-PMS2P11, EBF2, FAM173B, and TMTC1. The detection of a mutation in said genes can assist in the diagnosis of mental retardation and advanced cognitive impairment.
Inventors:
LIU JING (CN)
WANG LIANG (CN)
XIN CHENGQI (CN)
MA JINGYUN (CN)
WANG LIANG (CN)
XIN CHENGQI (CN)
MA JINGYUN (CN)
Application Number:
PCT/CN2019/081210
Publication Date:
January 23, 2020
Filing Date:
April 03, 2019
Export Citation:
Assignee:
THE FIRST AFFILIATED HOSPITAL OF DALIAN MEDICAL UNIV (CN)
International Classes:
C12Q1/6883; C12N15/11
Foreign References:
| CN101684491A | 2010-03-31 | |||
| CN103384887A | 2013-11-06 |
Other References:
GIKA, A. D.: "White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene", DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, vol. 52, 7 October 2009 (2009-10-07), pages 475 - 482, XP55675920, DOI: 10.1111/j.1469-8749.2009.03471.x
WILLEMSEN, M. H.: "Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function", J. MED. GENET., vol. 51, 8 May 2014 (2014-05-08), pages 487 - 494, XP055675991, DOI: 10.1136/jmedgenet-2013-102182
YOUN, D. Y.: "Regulation of metabolism by the Mediator complex", BIOPHYS. REP., 1 November 2016 (2016-11-01), pages 69 - 77, XP55676076, DOI: 10.1007/s41048-016-0031-6
See also references of EP 3828286A4
WILLEMSEN, M. H.: "Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function", J. MED. GENET., vol. 51, 8 May 2014 (2014-05-08), pages 487 - 494, XP055675991, DOI: 10.1136/jmedgenet-2013-102182
YOUN, D. Y.: "Regulation of metabolism by the Mediator complex", BIOPHYS. REP., 1 November 2016 (2016-11-01), pages 69 - 77, XP55676076, DOI: 10.1007/s41048-016-0031-6
See also references of EP 3828286A4
Attorney, Agent or Firm:
DALIAN EAST PATENT AGENT LTD. (CN)
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