Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature
Simultaneous evaluation of genetic and epigenetic alterations using long-read sequencing may improve the discovery of DNA methylation signatures, which may in turn increase the diagnostic yields. As an example of the outcomes of these analyses, we propose that a single-locus DNA methylation test at NSD1 CpGi may streamline the molecular diagnosis of Sotos syndrome, regardless of the type of NSD1 aberration.
Authors
- Kazuharu Misawa (ORCID: https://orcid.org/0000-0002-6277-4330)
- Kazuhiko Nakabayashi (ORCID: https://orcid.org/0000-0003-2927-0963)
- Nobuhiko Okamoto
- Satoko Miyatake (ORCID: https://orcid.org/0000-0001-7587-5168)
- Naoto Nishimura (ORCID: https://orcid.org/0000-0002-8666-0776)
- Eriko Koshimizu (ORCID: https://orcid.org/0000-0001-9947-3315)
- Kohei Hamanaka (ORCID: https://orcid.org/0000-0001-5179-331X)
- Naomi Tsuchida (ORCID: https://orcid.org/0000-0001-7203-884X)
- Masamune Sakamoto (ORCID: https://orcid.org/0000-0002-6017-3005)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Yuri Uchiyama (ORCID: https://orcid.org/0000-0002-4540-5277)
- Taiki Hara (ORCID: https://orcid.org/0000-0001-8522-3905)
- Atsushi Fujita (ORCID: https://orcid.org/0000-0003-1572-1014)
- Lina Fu (ORCID: https://orcid.org/0000-0002-8264-9377)
- Takeshi Mizuguchi
Institutions
- Osaka Women's and Children's Hospital (JP)
- Yokohama City University Hospital (JP)
- National Center For Child Health and Development (JP)
- Yokohama City University (JP)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2025-02-18
- DOI
- https://doi.org/10.1186/s13148-025-01832-0
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science