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Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q

Nature Geneticsvolume 25pages1517 (2000) | Download Citation

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Abstract

Human inherited cataract is both clinically diverse and genetically heterogeneous. Here we report the identification of the first mutations affecting the major intrinsic protein of the lens, MIP, encoded by the gene MIP on 12q14. MIP is a member of the aquaporin family of membrane-bound water channels. The mutations identified are predicted to disturb water flux across the lens cell membrane.

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Acknowledgements

We thank the families for their cooperation and P. Ball for help in preparing the illustrations. This work was supported by Wellcome Trust Grant 053416/Z/98.

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Author notes

  1. Vanita Berry and Peter Francis: These authors contributed equally to this work.

Affiliations

  1. Department of Molecular Genetics, Institute of Ophthalmology, London, UK

    • Vanita Berry
    • , Peter Francis
    • , Shalesh Kaushal
    •  & Shomi Bhattacharya
  2. Moorfields Eye Hospital, London, UK

    • Peter Francis
    •  & Anthony Moore
  3. Addenbrooke's Hospital, Cambridge, UK

    • Anthony Moore

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Correspondence to Shomi Bhattacharya.

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https://doi.org/10.1038/75538

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