Evaluation of the Norrie disease gene in a family with Incontinentia pigmenti

Incontinentia pigmenti (IP) is an ectodermal multisystem disorder which can affect dental, ocular, cardiac and neurologic structures. The ocular chang es of IP can have a very similar appearance to the retinal detachment of X- linked familial exudative vitreoretinopathy, which has been shown to be cau sed by the mutations in the Norrie disease gene,Therefore, it is of interes t to determine whether similar mutations in the gene can account for the re tinal pathology in patients with IF. To test our hypothesis, we have analyz ed the entire Norrie disease gene for a family with IF, by single strand co nformational polymorphism followed by DNA sequencing. The sequencing data r evealed no disease-specific sequence alterations, These data suggest that o cular findings of IP are perhaps associated with different genes and there is no direct relationship between the genotype and phenotype. Copyright (C) 2000 S. Karger AG, Basel.