Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

David D Geyer, M Anne Spence, Meriam Johannes, Pamela Flodman, Kevin P Clancy, Rebecca Berry, Robert S Sparkes, Matthew D Jonsen, Sherwin J Isenberg, J Bronwyn Bateman

Journal: American journal of ophthalmology 2006;141(4):761-3

PMID: 16564824

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Abstract

PURPOSE

To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13.

DESIGN

Observational case series and laboratory experimental study.

METHODS

We examined two at-risk individuals in ADC2. We PCR-amplified and sequenced all four exons and all intron-exon boundaries of the MIP gene from genomic and cloned DNA in affected members to confirm one variant as the putative mutation.

RESULTS

We found a novel single deletion of nucleotide (nt) 3223 (within codon 235) in exon four, causing a frameshift that alters 41 of 45 subsequent amino acids and creates a premature stop codon.

CONCLUSIONS

We identified a novel single base pair deletion in the MIP gene and conclude that it is a pathogenic sequence alteration.

Address: Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Denver, Colorado, USA.

DOI: 10.1016/j.ajo.2005.11.008

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MeSH Terms: Aquaporins, Base Sequence, Cataract, Chromosomes, Human, Pair 12, Codon, DNA Mutational Analysis, Eye Proteins, Female, Frameshift Mutation, Genes, Dominant, Genetic Linkage, Humans, Male, Membrane Glycoproteins, Pedigree, Phenotype, Polymerase Chain Reaction, Sequence Deletion