TY - JOUR AU - Schenkel, L. C. AU - Aref-Eshghi, E. AU - Rooney, K. AU - Kerkhof, J. AU - Levy, M. A. AU - McConkey, H. AU - Rogers, R. C. AU - Phelan, K. AU - Sarasua, S. M. AU - Jain, L. AU - Pauly, R. AU - Boccuto, L. AU - DuPont, B. AU - Cappuccio, G. AU - Brunetti-Pierri, N. AU - Schwartz, C. E. AU - Sadikovic, B. PY - 2021 DA - 2021/01/06 TI - DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome JO - Clinical Epigenetics SP - 2 VL - 13 IS - 1 AB - Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals. SN - 1868-7083 UR - https://doi.org/10.1186/s13148-020-00990-7 DO - 10.1186/s13148-020-00990-7 ID - Schenkel2021 ER -