Novel Autosomal Recessive Splice-Altering Variant in
PRKD1
congenital heart disease
multiple affected
splice altering variant
whole exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
21 04 2021
21 04 2021
Historique:
received:
22
03
2021
revised:
14
04
2021
accepted:
18
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
24
8
2021
Statut:
epublish
Résumé
Congenital heart defects (CHDs) are the most common types of birth defects, and global incidence of CHDs is on the rise. Despite the prevalence of CHDs, the genetic determinants of the defects are still in the process of being identified. Herein, we report a consanguineous Saudi family with three CHD affected daughters. We used whole exome sequencing (WES) to investigate the genetic cause of CHDs in the affected daughters. We found that all affected individuals were homozygous for a novel splice-altering variant (NM_001330069.1: c.265-1G>T) of
Identifiants
pubmed: 33919081
pii: genes12050612
doi: 10.3390/genes12050612
pmc: PMC8143129
pii:
doi:
Substances chimiques
RNA Splice Sites
0
protein kinase D
EC 2.7.10.-
Protein Kinase C
EC 2.7.11.13
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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