The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

Research output: Contribution to journalJournal articleResearchpeer-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.
Original languageEnglish
JournalMolecular Vision
Issue number116
Pages (from-to)1033-1039
Number of pages7
Publication statusPublished - 2006

    Research areas

  • 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

ID: 1201372