UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy,Japanese Journal of Ophthalmology

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UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy
Japanese Journal of Ophthalmology ( IF 2.1 ) Pub Date : 2022-11-11 , DOI: 10.1007/s10384-022-00951-y
Miki Tsuneya ₁ , Lily Wei Chen ₁ , Takashi Ono ₁ , Yumi Hashimoto ₁ , Kohdai Kitamoto ₁ , Yukako Taketani ₁ , Tetsuya Toyono ₁ , Makoto Aihara ₁ , Takashi Miyai ₁

Affiliation

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.

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