A TMEM260 biallelic deletion underlies truncus arteriosus
This is the first familial TA caused by a biallelic structural variation in <i>TMEM260</i>. The 7,066-bp deletion shows a high allele frequency in the Japanese population. These findings support the idea that this <i>TMEM260</i> deletion may be a significant cause of TA and should therefore be considered alongside the previously known c.1617del variant as a potential causative factor.
Authors
- Yumi Enomoto (ORCID: https://orcid.org/0000-0002-2704-9010)
- Takuya Naruto (ORCID: https://orcid.org/0000-0002-5590-8126)
- Jun Mitsui (ORCID: https://orcid.org/0000-0001-7425-4765)
- Hideaki Ueda
- K Kurosawa
Institutions
- Kanagawa Children's Medical Center (JP)
- National Center For Child Health and Development (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-12-30
- DOI
- https://doi.org/10.1159/000543316
- Primary Topic
- Coronary Artery Anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Health, Labour and Welfare
- University of Tokyo
- Japan Society for the Promotion of Science
- Graduate School of Frontier Sciences, University of Tokyo