Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Autosomal dominant
Exome sequencing
FAR1
Fatty acyl-CoA reductase 1
Spasticity
de novo
Journal
Indian journal of pediatrics
ISSN: 0973-7693
Titre abrégé: Indian J Pediatr
Pays: India
ID NLM: 0417442
Informations de publication
Date de publication:
19 Jun 2023
19 Jun 2023
Historique:
received:
27
12
2022
accepted:
02
05
2023
medline:
19
6
2023
pubmed:
19
6
2023
entrez:
19
6
2023
Statut:
aheadofprint
Résumé
FAR1 (MIM *616107) is required for the reduction of fatty acyl CoAs to fatty alcohols which is important for plasmalogen biosynthesis. Recently, heterozygous de novo variants in FAR1 have been associated with cataracts, spastic paraparesis, and speech delay (MIM# 619338). Three different heterozygous de novo variants, all located in the same codon, causing substitution of arginine at position 480 into cysteine, histidine, or leucine, were reported in patients in the latter disorder.Here, authors have identified a novel substitution in the same Arg480 position into serine. The authors also provide in silico docking analysis of the mutant protein.
Identifiants
pubmed: 37335441
doi: 10.1007/s12098-023-04652-3
pii: 10.1007/s12098-023-04652-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Department of Biotechnology, Ministry of Science and Technology, India
ID : BT/PR26428/MED/12/783/2017
Informations de copyright
© 2023. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.
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