Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD
This study clarify the pathogenicity of c.487 + 2 T > A and c.1395 T > G mutations, aiding in the diagnosis and genetic counseling of ETFDH in clinical practice. The significance of this study is to reveal that ETFDH gene may be a key regulatory gene in the development of polycystic kidney.
Authors
- Bijun Zhang (ORCID: https://orcid.org/0000-0002-7596-3376)
- Xinxin Si (ORCID: https://orcid.org/0000-0003-0393-4223)
- Fangbai Sun (ORCID: https://orcid.org/0000-0002-4474-8999)
- Rong Lucy He (ORCID: https://orcid.org/0000-0001-6116-8163)
- Dongyang Zhang (ORCID: https://orcid.org/0000-0002-4053-8476)
- Meng Luan
Institutions
- Fourth Affiliated Hospital of China Medical University (CN)
- China Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-12
- DOI
- https://doi.org/10.1186/s13023-025-03640-4
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Shenyang City
- Natural Science Foundation of Liaoning Province