Mutations in the IBA57 Gene as a Cause of Pediatric Leukodystrophy: A Case Report
DOI:
https://doi.org/10.46531/sinapse/CC/230035/2024Keywords:
Carrier Proteins/genetics, Child, Leukoencephalopathies/ genetics, Mitochondria/genetics, MutationAbstract
ATP production in the human body relies on oxidative phosphorylation, which in turn is regulated by mitochondrial and nuclear DNA.
Recently, mutations in genes responsible for the mitochondrial electron transport chain and oxidative phosphorylation have been identified as a causative factor in leu- kodystrophies, genetic disorders that primarily impact the brain white matter.
One of the genes implicated in this disease is IBA57 (1q42.13), which encodes a mitochondrial Fe/S cluster protein known as putative transferase CAF17. This protein is involved in the maturation of mitochondrial 4Fe-4S proteins.
We report the case of a child with a neurodegenerative condition and imaging in- dicative of leukodystrophy. Upon genetic analysis, two heterozygous variants in the IBA57 gene were identified.
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Copyright (c) 2024 Leonor Ladeira Rodrigues, Patrícia Janeiro, Tiago Proença dos Santos, Joana Coelho
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