A Complex Genomic Rearrangement Resulting in Loss of Function of
CGR
DEE
OGM
SCN1A
SCN2A
array CGH
chromothripsis
complex genomic rearrangements
cryptic rearrangement
developmental and epileptic encephalopathy
genome sequencing
optical genome mapping
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:
26 Oct 2022
26 Oct 2022
Historique:
received:
01
09
2022
revised:
14
10
2022
accepted:
17
10
2022
entrez:
11
11
2022
pubmed:
12
11
2022
medline:
15
11
2022
Statut:
epublish
Résumé
Complex genomic rearrangements (CGRs) are structural variants arising from two or more chromosomal breaks, which are challenging to characterize by conventional or molecular cytogenetic analysis (karyotype and FISH). The integrated approach of standard and genomic techniques, including optical genome mapping (OGM) and genome sequencing, is crucial for disclosing and characterizing cryptic chromosomal rearrangements at high resolutions. We report on a patient with a complex developmental and epileptic encephalopathy in which karyotype analysis showed a de novo balanced translocation involving the long arms of chromosomes 2 and 18. Microarray analysis detected a 194 Kb microdeletion at 2q24.3 involving the
Identifiants
pubmed: 36361691
pii: ijms232112900
doi: 10.3390/ijms232112900
pmc: PMC9656590
pii:
doi:
Substances chimiques
SCN2A protein, human
0
NAV1.2 Voltage-Gated Sodium Channel
0
SCN1A protein, human
0
NAV1.1 Voltage-Gated Sodium Channel
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministero della Salute
ID : RC2021
Références
Brain. 2017 May 1;140(5):1316-1336
pubmed: 28379373
Epilepsy Res. 2015 Jan;109:34-9
pubmed: 25524840
Curr Opin Neurol. 2021 Apr 1;34(2):213-218
pubmed: 33395108
Epileptic Disord. 2021 Feb 1;23(1):40-52
pubmed: 33632673
Trends Genet. 2009 Jul;25(7):298-307
pubmed: 19560228
Mol Med. 2019 Feb 27;25(1):6
pubmed: 30813884
Hum Mol Genet. 2011 May 15;20(10):1916-24
pubmed: 21349919
J Med Genet. 2014 Oct;51(10):650-8
pubmed: 25163687
Eur J Paediatr Neurol. 2020 Jan;24:117-122
pubmed: 31924505
J Clin Invest. 2005 Aug;115(8):2010-7
pubmed: 16075041
Cell. 2011 Jan 7;144(1):27-40
pubmed: 21215367
Epilepsia. 2012 Nov;53(11):1849-59
pubmed: 22905747
Cell. 2011 Sep 16;146(6):889-903
pubmed: 21925314
Data Brief. 2018 Aug 30;22:492-501
pubmed: 30619928
Methods. 2001 Dec;25(4):402-8
pubmed: 11846609
Nat Genet. 2012 Mar 04;44(4):390-7, S1
pubmed: 22388000
Mol Cytogenet. 2020 Jan 28;13:3
pubmed: 32010222