Jia Xu, Xin Zhang, Ying Hua, Li Yang, Dongyu Shi, Shiyan Qiu
tlooto Summary
A novel compound heterozygous IBA57 mutation is presented in a boy with severe global developmental delay, optic atrophy, spastic paraplegia, and focal epileptic seizures.
Abstract
Pathogenic variants of IBA57 (OMIM ID: 615330) are usually associated with multiple mitochondrial dysfunction syndrome (MMDS) and hereditary spastic paraplegia type 74 (SPG74). Here, we present a novel compound heterozygous IBA57 mutation in a boy with severe global developmental delay, optic atrophy, spastic paraplegia, and focal epileptic seizures.
Citation format
XU, Jia, et al. Multiple mitochondrial dysfunction syndrome caused by IBA57 gene mutation: A case report and literature review. Molecular Genetics & Genomic Medicine, 2026, 14(1): e70200.