Abstract
Purpose :
Mutations of the G-protein coupled receptor 143 (GPR143) gene are responsible for the ocular albinism type I (OA1), which is characterized as nystagmus, reduced visual acuity, macular hypoplasia, albinotic fundus with normally pigmented skin and hair. In this study, we investigated the GPR143 gene mutations in five Chinese families with the ocular albinism type I.
Methods :
Families were ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted. Candidate genes were sequenced by direct PCR and Sanger sequencing, and mutations analyzed.
Results :
Three novel frameshift mutations were detected in the GPR143 gene, including a 668 base pair large deletion encompassing the exon 2 of the GPR143 gene, and a small deletion of c.208_218del ( p.I70CfsX27) , as well as a splicing mutation of c.659-2A＞C in the intron 5. In addition, a previously reported missense mutation of c.251G>A (p.G84D) and a nonsense mutation of c.733C>T (p. R245X) was detected in each of two other families.
Conclusions :
Our study would further expand the GPR143 gene mutation spectrum and contribute to the study of the GPR143 gene’s molecular pathogenesis.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.