Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q
Copyright policy )Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q
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.
- Cambridge University Hospitals NHS Foundation Trust United Kingdom
- Institute of Ophthalmology Mexico
- Addenbrooke's Hospital United Kingdom
- Moorfields Eye Hospital United Kingdom
- Moorfields Eye Hospital NHS Foundation Trust United Kingdom
Adult, Male, Chromosomes, Human, Pair 12, Membrane Glycoproteins, Genetic Linkage, Molecular Sequence Data, Mutation, Missense, Aquaporins, Cataract, Pedigree, Humans, Female, Amino Acid Sequence, Child, Eye Proteins, Genes, Dominant
Adult, Male, Chromosomes, Human, Pair 12, Membrane Glycoproteins, Genetic Linkage, Molecular Sequence Data, Mutation, Missense, Aquaporins, Cataract, Pedigree, Humans, Female, Amino Acid Sequence, Child, Eye Proteins, Genes, Dominant
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