 Hi, I am Min Chang Xiao. I am a PhD student from Medical Genomics Lab from University of Alabama at Birmingham. Medical Genomics Lab is a CAP certified non-profit clinical lab, and Dr. DuVen Mission is the lab director. We offer comprehensive testing for common and rare genetic disorders, including NF1, Spray1, Washing Simzone, NF2, and Swannomatosis. I would like to introduce our study recently published in the journal Human Mutation. Parental Medi-Edit and Replication-Dependent Pathogenic Structural Arrangements within the NF1 gene. NF1 is a common neurocutaneous disorder, affecting about 1 in 3,000 individuals all over the world. This disorder is caused by mutation in the NF1 gene on chromosome 17. Within intron 40 of the NF1 gene, there is a 197-base-pale-long palindromic 80-rich repeat, as known as P8 or R17. We identified 6 unrelated patients with a rearrangement involving intron 40, including 5 deletions and 1 translocation between chromosome 14 and 17. Palindromic sequences are able to be associated with DNA double-shrine break. Therefore, we hypothesized that P8 or R17 might be involved in all of the rearrangement, thereby causing NF1. Breakpoint cloning revealed that P8 or R17 was indeed involved in all of the rearrangements. In all 5 deletions, as microhomology was present at all breakpoint junctions, and all P8 or R17 partner breakpoints were located within 7.1 kB upstream of P8 or R17. For storing and template switching was the most likely rearrangement mechanism. In addition, we identified introgenic rearrangement hotspot within the NF1 gene to a 7-base-pale sequence within the P8 or R17 loop. We proposed that, during DNA replication, P8 or R17 may form a helping structure that can store DNA replication. After disengaging from the original replication fork, the stored strain is free to invade a nearby replication fork through microhomology. Subsequently, the DNA replication restores an automated result in these deletions. In the translocation case, we proposed that the P8 or R17 form a cruciform structure storing DNA replication. The stored strains may go backwards and attempt to replicate again to surpass the collapsed replication fork. This serial storing and rede replication resulted in the 51 base-pale insertion and a failure to continue replication, leading to a 5.5 kB deletion on chromosome 17. On chromosome 14, a shorter panoramic zone and a cultured plaques form an g-ray sequence made it to a 4.8 kB deletion. Ultimately, the forebroken ends were likely misaligned through microhomology and connected by non-homologous end joining resulting the corpusomal translocation. Although several previous studies indicate a purely replication independent mechanism for P8 or R17 mediated translocations, the P8 or R17 mediated introgenic deletions as well as the translocation are likely the result of a replication-dependent mechanism. I would like to thank all the people involved in this work, and I would like to invite you to read a full article published in Human Mutation. If you have any questions or comments, please feel free to contact me. Thank you for your attention.