Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing
This study highlights the importance of combining WGS and RNA-seq and provides new insights into detecting abnormalities in deep intronic regions, particularly those involving mobile elements, such as Alu. This approach can play a crucial role in identifying genetic variations and elucidating transcriptional control mechanisms that are not readily achieved by conventional methods, especially in the context of mobile element-induced complexities.
Authors
- Yukiko Yatsuka (ORCID: https://orcid.org/0000-0003-3137-6919)
- Koichi Maruyama (ORCID: https://orcid.org/0000-0003-4830-7303)
- Ayumu Sugiura (ORCID: https://orcid.org/0000-0002-4776-1478)
- Akira Ohtake (ORCID: https://orcid.org/0000-0003-1147-3113)
- Yuichi Shiraishi (ORCID: https://orcid.org/0000-0001-6144-5845)
- Yoshihito Kishita (ORCID: https://orcid.org/0000-0003-4978-1680)
- Matsumoto Norihiro (ORCID: https://orcid.org/0000-0001-8689-7645)
- Kohta Nakamura (ORCID: https://orcid.org/0009-0009-9109-7250)
- Atsuko Imai‐Okazaki (ORCID: https://orcid.org/0000-0002-7517-2881)
- Holger Prokisch (ORCID: https://orcid.org/0000-0003-2379-6286)
- Yasushi Okazaki (ORCID: https://orcid.org/0000-0003-3241-5502)
- Hiroyasu Iwasa (ORCID: https://orcid.org/0000-0002-6800-2438)
- Kei Murayama (ORCID: https://orcid.org/0000-0002-3923-8636)
- Kokoro Ozaki (ORCID: https://orcid.org/0000-0001-9081-8348)
- Hiroshi Matsumoto (ORCID: https://orcid.org/0000-0002-0166-3469)
Institutions
- Helmholtz Zentrum München (DE)
- Juntendo University (JP)
- Institute of Human Genetics (PL)
- Chiba Hospital (JP)
- RIKEN Center for Integrative Medical Sciences (JP)
- Aichi Developmental Disability Center (JP)
- Technical University of Munich (DE)
- Saitama Medical University (JP)
- Kindai University (JP)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1212/nxg.0000000000200330
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00