Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma.

ABSTRACT:

Background

Cone-rod dystrophy (CORD) caused by pathogenic variants in CFAP410 is a very rare disease. The mechanisms by which the variants caused the disease remained largely unknown. CFAP410 pathogenic variants were identified in a cone-rod dystrophy with macular staphyloma patient. We explored the pathogenicity and performed functional analysis of two compound heterozygous mutations.

Methods

A 6-year-old boy complained decreased vision for 1 year, underwent ocular examinations together with systemic X-ray check. Blood sample was taken for targeted next generation sequencing (Tg-NGS). Pathogenicity of identified variants was determined by ACMG guideline. Mutated plasmids were constructed and transferred to HEK293T cells. Cell cycle, protein stability, and prot

SUBMITTER: Yang S 

PROVIDER: S-EPMC10601463 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature