Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
NF1
genetic diagnosis
modifier gene
nervous system
rare variants
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 11 2022
26 11 2022
Historique:
received:
28
09
2022
revised:
30
10
2022
accepted:
22
11
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
Neurological phenotypes such as intellectual disability occur in almost half of patients with neurofibromatosis 1 (NF1). Current genotype-phenotype studies have failed to reveal the mechanism underlying this clinical variability. Despite the presence of pathogenic variants of NF1, modifier genes likely determine the occurrence and severity of neurological phenotypes. Exome sequencing data were used to identify genetic variants in 13 NF1 patients and 457 healthy controls, and this information was used to identify candidate modifier genes underlying neurological phenotypes based on an optimal sequence kernel association test. Thirty-six genes were identified as significant modifying factors in patients with neurological phenotypes and all are highly expressed in the nervous system. A review of the literature confirmed that 19 genes including
Identifiants
pubmed: 36553485
pii: genes13122218
doi: 10.3390/genes13122218
pmc: PMC9778305
pii:
doi:
Types de publication
Review
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Sci Rep. 2017 Jan 18;7:40825
pubmed: 28098200
Cell Rep. 2015 Jan 13;10(2):148-61
pubmed: 25558065
BMC Med Genomics. 2018 May 25;11(1):50
pubmed: 29801487
Biology (Basel). 2017 Dec 26;7(1):
pubmed: 29278359
Am J Med Genet A. 2021 Jun;185(6):1925-1931
pubmed: 33704902
Am J Med Genet A. 2011 Mar;155A(3):478-85
pubmed: 21337692
PLoS Comput Biol. 2016 Apr 21;12(4):e1004873
pubmed: 27100738
Dev Med Child Neurol. 2013 Feb;55(2):111-25
pubmed: 22934576
Anticancer Res. 2014 Jul;34(7):3675-81
pubmed: 24982386
Nat Genet. 1997 Mar;15(3):281-4
pubmed: 9054942
Am J Med Genet A. 2017 Mar;173(3):647-653
pubmed: 27862945
Am J Med Genet A. 2010 Feb;152A(2):327-32
pubmed: 20082463
Eur J Neurol. 2012 Jul;19(7):1015-22
pubmed: 22340708
Nucleic Acids Res. 2004 Jan 1;32(Database issue):D258-61
pubmed: 14681407
Fertil Steril. 2021 Sep;116(3):843-854
pubmed: 34016428
Eur J Med Genet. 2018 Apr;61(4):209-212
pubmed: 29191496
PLoS Biol. 2011 May;9(5):e1001060
pubmed: 21572988
Biostatistics. 2012 Sep;13(4):762-75
pubmed: 22699862
Nucleic Acids Res. 2010 Jul;38(Web Server issue):W214-20
pubmed: 20576703
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Genet Med. 2010 Jan;12(1):1-11
pubmed: 20027112
Neurologia (Engl Ed). 2022 Jun;37(5):325-333
pubmed: 35672119
Genes (Basel). 2022 Jun 20;13(6):
pubmed: 35741860
Hum Mol Genet. 2014 Nov 1;23(21):5579-96
pubmed: 24895408
Nucleic Acids Res. 2020 Jan 8;48(D1):D498-D503
pubmed: 31691815
J Child Neurol. 2013 Jan;28(1):45-9
pubmed: 22496119
Orphanet J Rare Dis. 2019 Nov 15;14(1):261
pubmed: 31730495
Nucleic Acids Res. 2019 Jan 8;47(D1):D607-D613
pubmed: 30476243
Am J Hum Genet. 2018 Jan 4;102(1):69-87
pubmed: 29290338
Neurology. 2005 Oct 11;65(7):1037-44
pubmed: 16217056
Brain Res. 2020 Jan 1;1726:146459
pubmed: 31525351
J Nutr Biochem. 2019 Jul;69:31-43
pubmed: 31048207
Hum Mutat. 2013 Nov;34(11):1510-8
pubmed: 23913538
Nucleic Acids Res. 2000 Jan 1;28(1):27-30
pubmed: 10592173
Front Cell Dev Biol. 2021 Jun 08;9:612581
pubmed: 34169069
Am J Hum Genet. 2009 Sep;85(3):408-13
pubmed: 19716110
JAMA Psychiatry. 2016 Dec 01;73(12):1276-1284
pubmed: 27760236
J Neuroinflammation. 2008 Aug 20;5:36
pubmed: 18715507