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Article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Journal of inherited metabolic disease - 1 Nov 2015

Debray François-Guillaume, Stümpfig Claudia, Vanlander Arnaud V, Dideberg Vinciane, Josse Claire, Caberg Jean-Hubert, Boemer François, Bours Vincent, Stevens René, Seneca Sara, Smet Joél, Lill Roland, van Coster Rudy

Abstract excerpt

Leukodystrophies are a heterogeneous group of severe genetic neurodegenerative disorders. A multiple mitochondrial dysfunctions syndrome was found in an infant presenting with a progressive leukoencephalopathy. Homozygosity mapping, whole exome sequencing, and functional studies were used to define the underlying molecular defect. Respiratory chain studies in skeletal muscle isolated from the proband revealed a...

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Source

Identifiers

PMID: 25971455
DOI: 10.1007/s10545-015-9857-1

Genes

IBA57
ABCB10
BOLA3
NFU1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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