Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome
Brief Summary: Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. Our team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. We are collecting blood and skin biopsy samples from patients and their parents. A permanent cell line is prepared and DNA from the blood and skin samples and cell lines is isolated and then used for genetic testing. Our current research includes microarray analysis which we are using to look for duplications or deletions of genetic material, mutation analysis of candidate genes by sequencing, review of medical records to identify trends suggesting possible candidate genes of interest, and X chromosome inactivation studies.