New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
autism
intellectual disability
whole-exome sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
14 Dec 2021
14 Dec 2021
Historique:
received:
29
11
2021
revised:
07
12
2021
accepted:
10
12
2021
entrez:
24
12
2021
pubmed:
25
12
2021
medline:
11
1
2022
Statut:
epublish
Résumé
Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD. The prevalence of ID/ASD is 1-3%, and approximately 30% of the patients remain without a molecular diagnosis. Considering the extreme genetic locus heterogeneity, next-generation sequencing approaches have provided powerful tools for candidate gene identification. Molecular diagnosis is crucial to improve outcome, prevent complications, and hopefully start a therapeutic approach. Here, we performed parent-offspring trio whole-exome sequencing (WES) in a cohort of 60 mostly syndromic ID/ASD patients and we detected 8 pathogenic variants in genes already known to be associated with ID/ASD (
Identifiants
pubmed: 34948243
pii: ijms222413439
doi: 10.3390/ijms222413439
pmc: PMC8707363
pii:
doi:
Types de publication
Clinical Trial
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Genet Med. 2020 Jan;22(1):170-180
pubmed: 31332282
Brain Sci. 2021 Jul 16;11(7):
pubmed: 34356170
J Intellect Disabil Res. 2004 Mar;48(Pt 3):262-7
pubmed: 15025669
Clin Genet. 2020 Nov;98(5):433-444
pubmed: 32335911
Pediatrics. 2014 Sep;134(3):e903-18
pubmed: 25157020
Nat Rev Neurosci. 2015 Sep;16(9):551-63
pubmed: 26289574
Transl Pediatr. 2020 Feb;9(Suppl 1):S55-S65
pubmed: 32206584
Front Hum Neurosci. 2013 Oct 30;7:733
pubmed: 24198778
Nature. 2012 Apr 04;485(7397):237-41
pubmed: 22495306
Front Cell Neurosci. 2019 Aug 20;13:385
pubmed: 31481879
Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:161-74
pubmed: 24709068
J Neurosci Res. 1988 Sep;21(1):62-70
pubmed: 2464072
Eur J Neurosci. 2008 Oct;28(7):1362-76
pubmed: 18973563
Cell Rep. 2015 Jan 13;10(2):148-61
pubmed: 25558065
Am J Med Genet A. 2017 Aug;173(8):2226-2230
pubmed: 28602030
J Biol Chem. 1997 Dec 12;272(50):31625-9
pubmed: 9395502
Mol Autism. 2019 Aug 7;10:33
pubmed: 31406558
Mol Cell Neurosci. 2008 May;38(1):66-79
pubmed: 18353676
Behav Anal Pract. 2010 Fall;3(2):4-12
pubmed: 22532888
J Autism Dev Disord. 2015 Apr;45(4):966-74
pubmed: 25239176
J Intellect Disabil Res. 2001 Dec;45(Pt 6):467-83
pubmed: 11737534
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Nat Genet. 2021 Aug;53(8):1125-1134
pubmed: 34312540
Front Pediatr. 2021 Feb 19;9:526779
pubmed: 33681094
Psychiatr Danub. 2009 Mar;21(1):68-71
pubmed: 19270624
Case Rep Ophthalmol Med. 2012;2012:380863
pubmed: 23091761
Lancet. 2014 Mar 8;383(9920):896-910
pubmed: 24074734
Am J Hum Genet. 2016 Mar 3;98(3):541-552
pubmed: 26942287
J Cell Biol. 1995 Sep;130(5):1171-9
pubmed: 7657701
Cell. 1983 Oct;34(3):799-806
pubmed: 6194889
Genet Med. 2016 Sep;18(9):898-905
pubmed: 26795593
J Neurochem. 1988 Dec;51(6):1737-45
pubmed: 2460587
Nature. 2010 Jun 10;465(7299):728-35
pubmed: 20535202
DNA Res. 2002 Apr 30;9(2):47-57
pubmed: 12056414
Hum Genet. 2007 Nov;122(3-4):373-81
pubmed: 17653769
BMC Bioinformatics. 2010 Nov 08;11:548
pubmed: 21059217
Lancet. 2018 Aug 11;392(10146):508-520
pubmed: 30078460
Neurosci Bull. 2017 Apr;33(2):183-193
pubmed: 28213805
Cold Spring Harb Perspect Med. 2017 Mar 1;7(3):
pubmed: 28250017
Prim Care Companion J Clin Psychiatry. 2010;12(2):
pubmed: 20694130
Am J Hum Genet. 2001 Jul;69(1):25-34
pubmed: 11398101
Dialogues Clin Neurosci. 2012 Sep;14(3):281-92
pubmed: 23226953
Hum Genet. 2008 Oct;124(3):215-23
pubmed: 18719945
Ont Health Technol Assess Ser. 2020 Mar 6;20(11):1-178
pubmed: 32194879
Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19719-24
pubmed: 17172445
Dis Model Mech. 2019 May 13;12(5):
pubmed: 31088981
Acta Biomed. 2020 Nov 09;91(13-S):e2020003
pubmed: 33170170