Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands
<i>NDUFAF6</i>-related Leigh syndrome is a relevant cause of initial symptoms with abnormal gait, dystonia, and bilateral basal ganglia lesions. Two novel genetic variants, c.923 T > C and c.920 A > T were reported, which expands <i>NDUFAF6</i>-related Leigh syndrome and is advantageous for genetic counseling.
Authors
- Xiaofei Zeng (ORCID: https://orcid.org/0000-0001-8127-3825)
- Xiaoting Lou (ORCID: https://orcid.org/0009-0008-2125-6394)
- Liqin Jin (ORCID: https://orcid.org/0000-0002-1351-1948)
- Luyi Zhang
- Ting Shen
- Yuwei Zhou
- Ya Wang (ORCID: https://orcid.org/0000-0001-6229-4495)
- Yin Xiaojie
- Yanling Yang
- Keyi Li (ORCID: https://orcid.org/0009-0009-6880-2433)
- Peng‐Lei Qiu (ORCID: https://orcid.org/0000-0002-3104-0107)
- Xue Ma
Institutions
- Peking University (CN)
- Wenzhou Medical University (CN)
- Peking University First Hospital (CN)
- Zhejiang Provincial People's Hospital (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
- Hangzhou Medical College (CN)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101168
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China