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

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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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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