UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
Jpn J Ophthalmol
; 67(1): 38-42, 2023 Jan.
Article
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| MEDLINE
| ID: mdl-36367598
ABSTRACT
PURPOSE:
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). STUDYDESIGN:
Clinical studyMETHODS:
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.RESULTS:
All participants were found to be heterozygous for the pathogenic missense variation c.695 A > G (p.Asn232Ser) in exon 2 of UBIAD1.CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Distrofias Hereditarias de la Córnea
/
Dimetilaliltranstransferasa
Límite:
Adult
/
Humans
Idioma:
En
Revista:
Jpn J Ophthalmol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Japón