Ontology highlight
ABSTRACT:
SUBMITTER: Kagami M
PROVIDER: S-EPMC5392596 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Kagami Masayo M Matsubara Keiko K Nakabayashi Kazuhiko K Nakamura Akie A Sano Shinichiro S Okamura Kohji K Hata Kenichiro K Fukami Maki M Ogata Tsutomu T
Genetics in medicine : official journal of the American College of Medical Genetics 20160915 4
<h4>Purpose</h4>Recent studies have identified multilocus imprinting disturbances (MLIDs) in a subset of patients with imprinting diseases (IDs) caused by epimutations. We examined MLIDs in patients with Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14).<h4>Methods</h4>We studied four TS14 patients (patients 1-4) and five KOS14 patients (patients 5-9) with epimutations. We performed HumanMethylation450 BeadChip (HM450k) analysis for 43 differentially methylated regions (DMRs) (753 CpG sit ...[more]