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.
| Original language | English |
|---|---|
| Journal | Molecular Vision |
| Volume | 12 |
| Issue number | 116 |
| Pages (from-to) | 1033-1039 |
| Number of pages | 7 |
| ISSN | 1090-0535 |
| 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
Research areas
ID: 1201372