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Article

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.

Clinical genetics - 1 Feb 2018

Liu M, Zhang J, Zhang Z, Zhou L, Jiang Y, Wang J, Xiao J, Wu Y

Abstract excerpt

IBA57 is involved in the biogenesis of mitochondrial [4Fe-4S] proteins. Eighteen cases with IBA57 mutations have been reported to date. We described a novel phenotype in 11 children with cavitating leukoencephalopathy and summarized the phenotypic spectrum of IBA57 mutations. The median age of onset was 9 months, with an initial presentation of motor regression. Deterioration of neurological function reached its...

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Source

Identifiers

PMID: 28671726
DOI: 10.1111/cge.13090

Genes

IBA57

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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