The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
Research output: Contribution to journal › Journal article › Research › peer-review
"Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.
|Number of pages||7|
|Publication status||Published - 2006|
- Amino Acid Sequence, Base Sequence, Cataract, Connexins, Female, Haplotypes, Humans, Leucine, Lod Score, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Protein Sorting Signals, Protein Structure, Tertiary, Serine