Detection, Validation, and Cataloging of Copy Number Variation in the Dysferlin Gene
Copy number variations refers to duplication or deletion of a given gene. In this study, we will conduct retrospective and prospective analysis of 1000 CGH arrays to identify normal and pathogenic copy number variation in the dysferlin gene. We will explore the hypothesis that this study will reveal small rare intragenic deletions and duplications in dysferlin. A comprehensive database of all copy number variants including small CNVs in the dysferlin gene will be generated and made publicly available. As the number of cases analyzed increases, common non-pathogenic CNVs may be found which will serve as a guide to designing therapeutic strategies such as designing mini-dysferlins tailored to the patient mutations and understanding its effect on the dysferlin transcript and reading frame.