Title
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome
Description
Abstract Background 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. Results In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (
Publication Date
1-1-2021
Publisher
figshare Academic Research System
DOI
10.6084/m9.figshare.c.5259388.v1
Document Type
Data Set
Recommended Citation
Phelan, K.; Jain, L.; Brunetti-Pierri, N.; DuPont, B.; Sarasua, S.M.; Pauly, R.; Schenkel, L.C.; Levy, M.A.; Rooney, K.; Rogers, R.C.; Sadikovic, B.; McConkey, H.; Aref-Eshghi, E.; Schwartz, C.E.; Cappuccio, G.; Kerkhof, J.; Boccuto, L. (2021), "DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome", figshare Academic Research System, doi: 10.6084/m9.figshare.c.5259388.v1
https://doi.org/10.6084/m9.figshare.c.5259388.v1
Identifier
10.6084/m9.figshare.c.5259388.v1
Embargo Date
1-1-2021