Mutations in the IBA57 Gene as a Cause of Pediatric Leukodystrophy: A Case Report

Authors

  • Leonor Ladeira Rodrigues Faculdade de Medicina da Universidade de Lisboa / Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal https://orcid.org/0009-0006-2294-1452
  • Patrícia Janeiro Unidade de Doenças Metabólicas, Departamento de Pediatria / Hospital Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal https://orcid.org/0000-0002-8985-1156
  • Tiago Proença dos Santos Unidade de Neurologia Pediátrica, Departamento de Pediatria / Hospital Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal https://orcid.org/0000-0002-3165-1215
  • Joana Coelho Unidade de Neurologia Pediátrica, Departamento de Pediatria / Hospital Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal https://orcid.org/0009-0001-3635-894X

DOI:

https://doi.org/10.46531/sinapse/CC/230035/2024

Keywords:

Carrier Proteins/genetics, Child, Leukoencephalopathies/ genetics, Mitochondria/genetics, Mutation

Abstract

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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References

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Published

2024-06-05

How to Cite

1.
Ladeira Rodrigues L, Janeiro P, Proença dos Santos T, Coelho J. Mutations in the IBA57 Gene as a Cause of Pediatric Leukodystrophy: A Case Report. Sinapse [Internet]. 2024 Jun. 5 [cited 2024 Jul. 22];. Available from: https://sinapse.pt/index.php/journal/article/view/86

Issue

Section

Case Reports