UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
Genetic analysis
Pathogenic variation
Schnyder corneal dystrophy
UBIAD1
UbiA prenyltransferase domain-containing protein 1
Journal
Japanese journal of ophthalmology
ISSN: 1613-2246
Titre abrégé: Jpn J Ophthalmol
Pays: Japan
ID NLM: 0044652
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
13
05
2022
accepted:
25
08
2022
pubmed:
12
11
2022
medline:
28
1
2023
entrez:
11
11
2022
Statut:
ppublish
Résumé
We aimed to identify pathogenic variations in the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in a Japanese family with Schnyder corneal dystrophy (SCD). Clinical study METHODS: Three clinically diagnosed SCD patients from a single pedigree participated. Patients 1 and 2 were 69- and 65-year-old sisters, and patient 3 was the 42-year-old daughter of patient 1. Blood samples from the patients were obtained for genetic analysis. Mutation screening of the two UBIAD1 exons was performed using polymerase chain reaction (PCR)-based DNA sequencing. All participants were found to be heterozygous for the pathogenic missense variation c.695 A > G (p.Asn232Ser) in exon 2 of UBIAD1. This is the first report on the pathogenic UBIAD1 variation c.695 A > G (p.Asn232Ser) in a Japanese population. SCD is a rare corneal dystrophy, and further research on additional cases will aid in the elucidation of disease mechanisms and development of therapeutic strategies.
Identifiants
pubmed: 36367598
doi: 10.1007/s10384-022-00951-y
pii: 10.1007/s10384-022-00951-y
doi:
Substances chimiques
Dimethylallyltranstransferase
EC 2.5.1.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
38-42Informations de copyright
© 2022. Japanese Ophthalmological Society.
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