Citation:Chen XT,Huang H,Chen YH,Dong LJ,Li XR,Zhang XM.Achromatopsia caused by novel missense mutations in the CNGA3 gene.Int J Ophthalmol 2015;8(5):910-915,doi:10.3980/j.issn.2222-3959.2015.05.10
Achromatopsia caused by novel missense mutations in the CNGA3 gene
Received:January 27, 2015  Revised:March 14, 2015
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DOI:10.3980/j.issn.2222-3959.2015.05.10
Key Words:achromatopsia; genetic analysis; missense mutation
Fund Project:Supported by the National Natural Science Foundation of China (No.81371005; No.31100991).
                 
AuthorInstitution
Xi-Teng Chen Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin , China
Hui Huang BGI Health Service Co., Ltd.Airport Industrial Zone, Tianjin , China
Yan-Hua Chen BGI Health Service Co., Ltd.Airport Industrial Zone, Tianjin , China
Li-Jie Dong Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin , China
Xiao-Rong Li Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin , China
Xiao-Min Zhang Tianjin Medical University Eye Hospital, Eye Institute & School of Optometry and Ophthalmology, Tianjin , China
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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 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.

    CONCLUSION: 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.

PMC FullText Html:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630996/
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