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A novel missense mutation in the NYX gene associated with high myopia

Authors

  • Shea Ping Yip,

    Corresponding author
    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Choi Chu Li,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    2. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Wai Chi Yiu,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    2. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Wing Hong Hung,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Wai Wa Lam,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Man Chi Lai,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Po Wah Ng,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    2. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Wai Yan Fung,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Patrick HW Chu,

    1. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Bo Jiang,

    1. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    2. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
    3. Department of Ophthalmology, The First Affiliated hospital, College of Medicine, Zhejiang University, Hangzhou, China
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  • Henry HL Chan,

    1. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
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  • Maurice KH Yap

    1. Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China
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Abstract

Purpose

Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. We explored if NYX mutations could be associated with high myopia, but not CSNB1A.

Methods

The coding regions of the NYX gene were sequenced for 204 Chinese males with high myopia (−8.00 dioptres or worse for both eyes). The frequencies of any sequence variations identified were determined in 200 Chinese males without myopia. Electro-oculography, electroretinography and standard cone function tests were performed on a male high myope carrying a mutation.

Results

A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiological tests, the proband was found to have normal rod function, but mildly abnormal cone function and inner retina function. He did not seem to suffer from CSNB1A.

Conclusions

One novel missense NYX mutation was identified in an adult male presented with high myopia, but without the major electrophysiological features normally associated with CSNB1A. NYX gene mutations may be considered as one of the rare genetic risk factors for high myopia without key features of CSNB1A.

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