A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Journal
Gene
ISSN: 1879-0038
Titre abrégé: Gene
Pays: Netherlands
ID NLM: 7706761
Informations de publication
Date de publication:
20 Jul 2023
20 Jul 2023
Historique:
received:
12
03
2023
revised:
01
05
2023
accepted:
09
05
2023
medline:
9
6
2023
pubmed:
18
5
2023
entrez:
17
5
2023
Statut:
ppublish
Résumé
Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by hyperammonemia. She was diagnosed with Citrin deficiency after a thorough biochemical and molecular analysis including amino acid profile, DNA sequencing of genes of interest and RNA splice site evaluation, to reveal a yet unknown damaging variant of the SLC25A13 gene.
Identifiants
pubmed: 37196891
pii: S0378-1119(23)00324-4
doi: 10.1016/j.gene.2023.147483
pii:
doi:
Substances chimiques
Mitochondrial Membrane Transport Proteins
0
Calcium-Binding Proteins
0
Organic Anion Transporters
0
SLC25A13 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
147483Informations de copyright
Copyright © 2023 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.