Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome

Am J Med Genet A. 2017 Oct;173(10):2847-2850. doi: 10.1002/ajmg.a.38419. Epub 2017 Aug 16.

Authors

Takanobu Inoue^{1

2}, Akie Nakamura¹, Keiko Matsubara¹, Hiromi Nyuzuki³, Keisuke Nagasaki³, Akira Oka², Maki Fukami¹, Masayo Kagami¹

Affiliations

¹ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
² Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
³ Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

PMID: 28816024
DOI: 10.1002/ajmg.a.38419

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Twin Study

MeSH terms

Beckwith-Wiedemann Syndrome / diagnosis
Beckwith-Wiedemann Syndrome / genetics*
Body Weight
DNA Methylation*
Epigenomics / methods
Female
Genetic Association Studies
Growth Charts
Humans
Infant
Phenotype
Potassium Channels, Voltage-Gated / genetics

Substances

KCNQ1OT1 long non-coding RNA, human
Potassium Channels, Voltage-Gated