UNIVERSITY OF MIAMI
Genetic Studies in Neurological Disorders
To date, researchers have completed sequencing 576 individuals for 32 primer sets covering the exonic regions of MECP2, MBD5, MBD6, SETDB1, and SETDB2. From these preliminary results, we have identified 46 variations in three genes comprising 43 single nucleotide polymorphisms, 2 insertions and a single deletion. Once the sequencing is complete, additional family members will be sequenced to distinguish between inherited and de novo alterations and, in multiplex families, whether the variants segregate with disease.