A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions
Loss of maternal GNAS-H transcript precedes the onset of abnormal methylation imprinting at the GNAS-DMRs and contributes to its establishment. We also revealed that LRS is useful for diagnosing and researching imprinting disorders.
Authors
- Takuhito Nagai (ORCID: https://orcid.org/0000-0002-7916-2963)
- Tomoyuki Kawasaki
- Haipeng Huang (ORCID: https://orcid.org/0000-0002-1251-328X)
- Tatsuki Urakawa
- Maki Fukami (ORCID: https://orcid.org/0000-0001-9971-4035)
- Masayo Kagami
- Hirotomo Saitsu
- Atsushi Hattori
- Hidenori Akutsu
Institutions
- Hamamatsu University School of Medicine (JP)
- Gifu Prefectural Tajimi Hospital (JP)
- National Center For Child Health and Development (JP)
- Nagasaki University (JP)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2026-03-16
- DOI
- https://doi.org/10.1186/s13148-026-02107-y
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00