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

V Berry; P Francis; S Kaushal; A Moore; S Bhattacharya

doi:10.1038/75538

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

Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538.

Authors

V Berry¹, P Francis, S Kaushal, A Moore, S Bhattacharya

Affiliation

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

PMID: 10802646
DOI: 10.1038/75538

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Sequence
Aquaporins
Cataract / classification
Cataract / genetics*
Child
Chromosomes, Human, Pair 12 / genetics*
Eye Proteins / genetics*
Female
Genes, Dominant / genetics*
Genetic Linkage / genetics*
Humans
Male
Membrane Glycoproteins / genetics*
Molecular Sequence Data
Mutation, Missense / genetics*
Pedigree

Substances

Aquaporins
Eye Proteins
Membrane Glycoproteins
aquaporin 0