Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 141, Issue 4, Pages 761-763Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajo.2005.11.008
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Funding
- NEI NIH HHS [R01 EY008282-13, R01 EY 08282, R01 EY008282] Funding Source: Medline
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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.
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