DNA methylation data from Japanese patients with Rubinstein–Taybi syndrome
An episignature is a genome-wide DNA methylation pattern that is specific to each syndrome or etiologic gene. Episignature analysis helps to diagnose patients with variants of uncertain significance (VUS), but this requires positive methylation datasets from patients with a definitive diagnosis. Here we provide methylation datasets of Rubinstein-Taybi syndrome at the individual patient level, which have not been published before. This dataset increases the likelihood of determining the function of the VUS.
Authors
- Kazuhiko Nakabayashi (ORCID: https://orcid.org/0000-0003-2927-0963)
- Tomoko Kawai (ORCID: https://orcid.org/0000-0001-8137-0334)
- Rika Kosaki (ORCID: https://orcid.org/0000-0002-4367-6129)
- Tadashi Kaname (ORCID: https://orcid.org/0000-0003-0281-9610)
- Kenichiro Hata (ORCID: https://orcid.org/0000-0002-7809-7637)
- Taiga Aoki (ORCID: https://orcid.org/0000-0001-6043-9355)
Institutions
- Gunma University (JP)
- National Center For Child Health and Development (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1038/s41439-025-00332-0
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development