title: Achromatopsia caused by novel missense mutations in the CNGA3 gene.
abstract: OBJECTIVE
  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 analysis revealed two novel missense mutations in CNGA3, c.633T>A (p.D211E) and c.1006G>T (p.V336F), with an autosomal recessive mode of inheritance.
  
  
  CONCLUSIONS
  Genetic analysis of a Chinese family confirmed the clinical diagnosis of achromatopsia. Two novel mutations were identified in CNGA3, which extended the mutation spectrum of this disorder.
authors.affiliation: Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin 300384, China.
authors.forename: Xi-Teng
authors.initials: XT
authors.lastname: Chen
authors.affiliation: BGI Health Service Co., Ltd. Airport Industrial Zone, Tianjin 300308, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Huang
authors.affiliation: BGI Health Service Co., Ltd. Airport Industrial Zone, Tianjin 300308, China.
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Chen
authors.affiliation: Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin 300384, China.
authors.forename: Li-Jie
authors.initials: LJ
authors.lastname: Dong
authors.affiliation: Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin 300384, China.
authors.forename: Xiao-Rong
authors.initials: XR
authors.lastname: Li
authors.affiliation: Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin 300384, China.
authors.forename: Xiao-Min
authors.initials: XM
authors.lastname: Zhang
keywords: achromatopsia; genetic analysis; missense mutation