UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
- Resource Type
- Article
- Authors
- Tsuneya, Miki; Chen, Lily Wei; Ono, Takashi; Hashimoto, Yumi; Kitamoto, Kohdai; Taketani, Yukako; Toyono, Tetsuya; Aihara, Makoto; Miyai, Takashi
- Source
- Japanese Journal of Ophthalmology. Jan2023, Vol. 67 Issue 1, p38-42. 5p.
- Subject
- *DIMETHYLALLYLTRANSTRANSFERASE
*CORNEAL dystrophies
*JAPANESE people
*POLYMERASE chain reaction
*DNA sequencing
*PROTEINS
- Language
- ISSN
- 0021-5155
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). Study Design: 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. 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. [ABSTRACT FROM AUTHOR]