Interpretation of Test Results

Initial reports on BOR syndrome described a patient with a complex cytogenetic rearrangement on chromosome 8q78,79 and another patient with 8q12.2-q21 deletion,80 indicating that complex genomic rearrangements can cause this phenotype. In the first two mutation analyses of EYA1, three large deletions are described.65,66 Current estimates suggest that about one fifth of EYA1 mutations resulting in BOR syndrome represent complex genomic rearrangements, perhaps indicating that the EYA1 region is unstable.81 These rearrangements cannot be detected by commonly used mutation screening procedures, making it impossible to use a single approach for mutation screening of EYA1.

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