Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
DNM1
developmental and epileptic encephalopathies (DEEs)
homozygous variant
non-sense variant
novel mutation
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2023
2023
Historique:
received:
24
07
2023
accepted:
06
09
2023
medline:
30
10
2023
pubmed:
30
10
2023
entrez:
30
10
2023
Statut:
epublish
Résumé
Developmental and epileptic encephalopathies (DEEs) signify a group of heterogeneous neurodevelopmental disorder associated with early-onset seizures accompanied by developmental delay, hypotonia, mild to severe intellectual disability, and developmental regression. Variants in the In the current study, a consanguineous Pakistani family consisting of a proband (IV-2) was clinically evaluated and genetically analyzed manifesting in severe neurodevelopmental phenotypes. WES followed by Sanger sequencing was performed to identify the disease-causing variant. Furthermore, 3D protein modeling and dynamic simulation of wild-type and mutant proteins along with reverse transcriptase (RT)-based mRNA expression were checked using standard methods. Data analysis of WES revealed a novel homozygous non-sense variant (c.1402G>T; p. Glu468*) in exon 11 of the Our finding further confirms the association of homozygous, loss-of-function variants in
Sections du résumé
Background
UNASSIGNED
Developmental and epileptic encephalopathies (DEEs) signify a group of heterogeneous neurodevelopmental disorder associated with early-onset seizures accompanied by developmental delay, hypotonia, mild to severe intellectual disability, and developmental regression. Variants in the
Methods
UNASSIGNED
In the current study, a consanguineous Pakistani family consisting of a proband (IV-2) was clinically evaluated and genetically analyzed manifesting in severe neurodevelopmental phenotypes. WES followed by Sanger sequencing was performed to identify the disease-causing variant. Furthermore, 3D protein modeling and dynamic simulation of wild-type and mutant proteins along with reverse transcriptase (RT)-based mRNA expression were checked using standard methods.
Results
UNASSIGNED
Data analysis of WES revealed a novel homozygous non-sense variant (c.1402G>T; p. Glu468*) in exon 11 of the
Conclusion
UNASSIGNED
Our finding further confirms the association of homozygous, loss-of-function variants in
Identifiants
pubmed: 37900685
doi: 10.3389/fped.2023.1266376
pmc: PMC10601988
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1266376Informations de copyright
© 2023 Afsar, Huang, Shah, Abbas, Bano, Mahmood, Hu, Razak and Umair.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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