[Clinical characteristics and genetic analysis of two children with Multiple mitochondrial dysfunction syndrome due to variants of IBA57 gene].
The compound heterozygous variants c.286T>C (p.Tyr96His) and c.307C>T (p.Gln103Ter) of the IBA57 gene probably underlay the MMDS type 3 in the twin pair. Clinicians should be vigilant about the possibility of MMDS type 3 in children with neurodevelopmental regression and early cranial MRI findings indicating widespread white matter abnormalities with vacuolar changes, as these may be indicative of IBA57 gene variants.
Authors
- Shanjun Chen (ORCID: https://orcid.org/0000-0003-2745-3408)
- Lijuan Liu (ORCID: https://orcid.org/0000-0002-2549-5463)
- Jingjing Li (ORCID: https://orcid.org/0000-0001-6136-3428)
- Xiang-shu Wen
- Qiuping Wu
Institutions
- Weihai Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20241017-00542
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00