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

Nature Genetics volume 25, pages 15–17 (2000)Cite this article

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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Figure 1: Cataract phenotypes and linkage data.
Figure 2: Mutation analysis and protein sequence alignment.

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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.

Authors and 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

Authors
  1. Vanita Berry
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  2. Peter Francis
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  3. Shalesh Kaushal
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  4. Anthony Moore
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  5. Shomi Bhattacharya
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Correspondence to Shomi Bhattacharya.

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Berry, V., Francis, P., Kaushal, S. et al. Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q. Nat Genet 25, 15–17 (2000). https://doi.org/10.1038/75538

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