Achromatopsia caused by novel missense mutations in the CNGA3 gene.

ABSTRACT:

Aim

To identify the genetic defects in a Chinese family with achromatopsia.

Methods

A 2.5-year-old boy, who displayed nystagmus, photophobia, and hyperopia since early infancy, was clinically evaluated. To further confirm and localize the causative mutations in this family, targeted region capture and next-generation sequencing of candidate genes, such as CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H were performed using a custom-made capture array.

Results

Slit-lamp examination showed no specific findings in the anterior segments. The optic discs and maculae were normal on fundoscopy. The unaffected family members reported no ocular complaints. Clinical signs and symptoms were consistent with a clinical impression of autosomal recessive achromatopsia. The results of sequence

SUBMITTER: Chen XT 

PROVIDER: S-EPMC4630996 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature