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Article

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.

Molecular genetics & genomic medicine - 1 Jan 2022

Wen Yan, Lu Guoyan, Qiao Lina, Li Yifei

Abstract excerpt

BACKGROUND: The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few causative mutations have been identified. Here we report a rare case of Leigh syndrome in an infant who died in the early postnatal period. METHODS: We performed whole-exome sequencing (WES) and mutation analysis of NDUFAF5 to obtain genetic data on the patient and...

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Identifiers

PMID: 34964562
DOI: 10.1002/mgg3.1852
PMCID: PMC8801144

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