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

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.

Cite this paper

@article{Geyer2006NovelSD, title={Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.}, author={David Geyer and M. Anne Spence and Meriam Johannes and Pamela Flodman and Kevin Clancy and Rebecca Rialon Berry and Robert S. Sparkes and Matthew D Jonsen and Sherwin J. Isenberg and J. Bronwyn Bateman}, journal={American journal of ophthalmology}, year={2006}, volume={141 4}, pages={761-3} }