Novel ingle-Bae Deletional Mutation in Major Intrinic Protein (MIP) in Autoomal Dominant Cataract

Purpoe To further elucidate the cataract phenotype, and identify the gene and mutation for autoomal dominant cataract (ADC) in an American family of European decent (ADC2) by equencing the major intrinic protein gene (MIP), a candidate baed on linkage to chromoome 12q13. Deign Obervational cae erie and laboratory experimental tudy. Method We examined two at-rik individual in ADC2. We PCR-amplified and equenced all four exon and all intron-exon boundarie of the MIP gene from genomic and cloned DNA in affected member to confirm one variant a the putative mutation. Reult We found a novel ingle deletion of nucleotide (nt) 3223 (within codon 235) in exon four, cauing a framehift that alter 41 of 45 ubequent amino acid and create a premature top codon. Concluion We identified a novel ingle bae pair deletion in the MIP gene and conclude that it i a pathogenic equence alteration.