Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of
OAT gene
allele
autosomal recessive
carrier
gyrate atrophy of the choroid and retina (GACR)
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
02 Aug 2024
02 Aug 2024
Historique:
received:
19
04
2024
revised:
18
07
2024
accepted:
01
08
2024
medline:
1
9
2024
pubmed:
31
8
2024
entrez:
29
8
2024
Statut:
epublish
Résumé
This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with vitamin B6 supplementation was implemented; clinical assessments were repeated every 3 months during follow-up. The relative
Identifiants
pubmed: 39202380
pii: genes15081020
doi: 10.3390/genes15081020
pii:
doi:
Substances chimiques
Ornithine-Oxo-Acid Transaminase
EC 2.6.1.13
OAT protein, human
EC 2.6.1.1.13
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Natural Science Foundation of China
ID : 82070975
Organisme : National Natural Science Foundation of China
ID : 82201204
Organisme : National Natural Science Foundation of China
ID : 82101149
Organisme : Shanghai Science and Technology Development Foundation
ID : 21ZR1411400
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.