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Article

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

European journal of human genetics : EJHG - 1 Oct 2021

Lin Siying, Fasham James, Al-Hijawi Fida', Qutob Nouar, Gunning Adam, Leslie Joseph S, McGavin Lucy, Ubeyratna Nishanka, Baker Wisam, Zeid Ramez, Turnpenny Peter D, Crosby Andrew H, Baple Emma L, Khalaf-Nazzal Reham

Abstract excerpt

Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated...

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Identifiers

PMID: 34012134
DOI: 10.1038/s41431-021-00887-w
PMCID: PMC8484551

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