December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
An A112V mutation in the CRX gene identified in 3 Chinese family with retinal degeneration other than LCA
Author Affiliations & Notes
  • Q Zhang
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • S Li
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • X Xiao
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • X Guo
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • X Jia
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • Footnotes
    Commercial Relationships   Q. Zhang, None; S. Li, None; X. Xiao, None; X. Guo, None; X. Jia, None. Grant Identification: 863 Plan (Z19-01-04-02, QZ), OYSFMOH(97016), HYTFYTU(6041), and NSFGD(010765)
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 812. doi:
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    • Get Citation

      Q Zhang, S Li, X Xiao, X Guo, X Jia; An A112V mutation in the CRX gene identified in 3 Chinese family with retinal degeneration other than LCA . Invest. Ophthalmol. Vis. Sci. 2002;43(13):812.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To Screen for CRX mutations in patients with retinal degeneration other than Leber congenital amaurosis. Methods: Genemic DNA was prepared from 23 probands with macular choroid atrophy, 180 probands with high myopia, 18 patients with cone-rod dystrophy, and 90 unselected individuals without retinal degeneration. The coding sequences of the CRX gene were analyzed using PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. Results: We identified an A112V(C→T, GCC→GTC) heterozygous mutation in the CRX gene in three patients but not in the 90 controls. Of the three patients, one had macular choroids atrophy, another had high myopia, and the third one had cone-rod dystrophy. The child diadnosed as cone-rod dystrophy at 4 month old with visual test and ERG examination became normal in the following examination at 16 month-old. His father also had the same mutation without any ocular abnormalities. Conclusion: An novel A112V mutation was identified in 3 families with retinal degeneration but was not detected in 90 normal unselected individuals without a family history of retinal degeneration.

Keywords: 562 retinal degenerations: hereditary • 480 mutations • 335 candidate gene analysis 
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