A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.

ABSTRACT:

Purpose

Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To improve the relatively low variant detection ratio in these genes in a cohort of exome-sequenced Japanese patients with inherited retinal diseases (IRD), we performed genome sequencing to detect structural variants and intronic variants in patients with ACHM.

Methods

Genome sequencing of 10 ACHM pedigrees was performed after exome sequencing. Structural, non-coding, and coding variants were filtered based on segregation between the affected and unaffected in each pedigree. Variant frequency and predicted damage scores w

SUBMITTER: Suga A 

PROVIDER: S-EPMC11613597 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature