A Novel Nonsense
MMP21
congenital heart defect (CHD)
dextrocardia
stopgain variant
whole exome sequencing
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2020
2020
Historique:
received:
11
07
2020
accepted:
12
10
2020
entrez:
26
11
2020
pubmed:
27
11
2020
medline:
27
11
2020
Statut:
epublish
Résumé
The position and morphology of human internal organs are asymmetrically distributed along the left-right axis. Aberrant left-right patterning in the developing embryo can lead to a series of congenital laterality defects, such as dextrocardia and heterotaxy syndrome. Laterality defects are a genetic condition; however, pathogenic genetic lesions are found in only one-fifth of patients. In this study, whole-exome sequencing was conducted for 78 patients with laterality defects. We identified a novel stopgain variant in
Identifiants
pubmed: 33240936
doi: 10.3389/fcvm.2020.582350
pmc: PMC7680847
doi:
Types de publication
Case Reports
Langues
eng
Pagination
582350Informations de copyright
Copyright © 2020 Yuan, Fan, Jiang, Yang and Tan.
Références
Nature. 2015 May 28;521(7553):520-4
pubmed: 25807483
Eur J Hum Genet. 2019 Apr;27(4):563-573
pubmed: 30622330
Am J Cardiol. 2011 Nov 1;108(9):1352-61
pubmed: 21861958
Chest. 2014 Nov;146(5):1176-1186
pubmed: 24577564
Am J Hum Genet. 2018 Dec 6;103(6):995-1008
pubmed: 30471718
Dev Cell. 2003 Jan;4(1):95-106
pubmed: 12530966
Am J Hum Genet. 2016 Aug 4;99(2):460-9
pubmed: 27486780
J Med Genet. 2015 Dec;52(12):840-7
pubmed: 26429889
Heart Lung Circ. 2016 Apr;25(4):352-7
pubmed: 26541676
Nat Rev Mol Cell Biol. 2019 Jul;20(7):406-420
pubmed: 30992545
Nat Genet. 2015 Nov;47(11):1363-9
pubmed: 26437029
Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17
pubmed: 19876930
PLoS One. 2017 Feb 13;12(2):e0171905
pubmed: 28192468
Nat Genet. 2015 Nov;47(11):1260-3
pubmed: 26437028
J Hum Genet. 2019 Mar;64(3):249-252
pubmed: 30504913
Biochem J. 2003 Jun 1;372(Pt 2):503-15
pubmed: 12617721
Am J Hum Genet. 2018 Dec 6;103(6):984-994
pubmed: 30471717
J Hum Genet. 2019 Mar;64(3):233-238
pubmed: 30542207
Nat Genet. 2011 Jan;43(1):79-84
pubmed: 21131974