Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
The frequency of MLID was 7.5% (29/386) in IDs caused by confirmed epimutation. Furthermore, we revealed diverse patterns of hypomethylation-dominant methylation defects, nine deleterious variants, ND/IDD complications in about half of the MLID patients, and a high frequency of MLID in ART-conceived patients.
Authors
- Masayo Kagami (ORCID: https://orcid.org/0000-0003-3020-455X)
- Sayaka Kawashima (ORCID: https://orcid.org/0009-0001-2159-4245)
- Tsutomu Ogata (ORCID: https://orcid.org/0000-0001-7178-9991)
- Hiromune Narusawa
- Kaori Yamoto (ORCID: https://orcid.org/0000-0001-6001-6395)
- Kazuki Yamazawa (ORCID: https://orcid.org/0000-0003-4895-2759)
- Shinji Saitoh (ORCID: https://orcid.org/0000-0001-6911-3351)
- Rika Kosaki (ORCID: https://orcid.org/0000-0002-4367-6129)
- Kaori Hara‐Isono
- Takanobu Inoue (ORCID: https://orcid.org/0000-0001-8495-5776)
- Akie Nakamura
- Hidenobu Soejima (ORCID: https://orcid.org/0000-0001-5076-6563)
- Keiko Matsubara (ORCID: https://orcid.org/0000-0001-6254-9216)
- Yutaka Nishimura
- Maki Fukami (ORCID: https://orcid.org/0000-0001-9971-4035)
- Tatsuki Urakawa
- Yukako Muramatsu (ORCID: https://orcid.org/0000-0002-4503-9094)
- Tetsuo Hattori
Institutions
- Saga University (JP)
- Hamamatsu University School of Medicine (JP)
- Nagoya City University (JP)
- Tokyo Medical Center (JP)
- Hiroshima City Asa Citizens Hospital (JP)
- National Center For Child Health and Development (JP)
- Chiba Hospital (JP)
- Anjo Kosei Hospital (JP)
- Mizuho (Japan) (JP)
- Hamamatsu Medical Center (JP)
- Nagasaki University (JP)
- Nagoya University (JP)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2024-10-05
- DOI
- https://doi.org/10.1186/s13148-024-01744-5
- Citations
- 12
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 6.05
Funders
- Takeda Science Foundation
- National Center for Child Health and Development
- Japan Agency for Medical Research and Development
- Naito Science and Engineering Foundation
- Novo Nordisk
- Novo Nordisk Pharma
- Japan Society for the Promotion of Science