GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.

ABSTRACT:

Purpose

Infantile nystagmus syndrome (INS), or congenital nystagmus (CN), refers to a group of ocular motor disorders characterized by rapid to-and-fro oscillations of the eyes. GPR143 is the causative gene of ocular albinism type 1 (OA1), which is a special type of INS that manifests as reduced vision, nystagmus, and iris and fundus hypopigmentation. Here, we explored the genetic spectrum of INS and the genotype-phenotype correlation.

Methods

A total of 98 families with INS from Southeast China were recruited for this study. A sample from each participant was subjected to PCR-based DNA direct sequencing of GPR143. Varied bioinformatics analysis was subsequently used in a mutation assessment. All participants received detailed ophthalmic examinations.

Result

SUBMITTER: Xu J 

PROVIDER: S-EPMC10784212 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature