Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

ABSTRACT:

Background

To report the clinical and genetic findings from seven Chinese patients with choroideremia.

Methods

Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) was performed on samples from all patients. Detailed clinical characteristics of the patients with choroideremia identified in this study were assessed using multimodal imaging.

Results

Seven patients with choroideremia were identified, and six novel variants in CHM (c.1960 T > C p.Ter654Gln, c.1257del p.Ile420*fs1, c.1103_1121delATGGCAACACTCCATTTTT p.Tyr368Cysfs35, c.1414-2A > T, and c.1213C > T p.Gln405Ter, c.117-1G > A) were revealed. All variants were deleterious mutations:

SUBMITTER: Gao FJ 

PROVIDER: S-EPMC7268499 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature