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NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Cell reports - 27 Jun 2013

Pitceathly Robert D S, Rahman Shamima, Wedatilake Yehani, Polke James M, Cirak Sebahattin, Foley A Reghan, Sailer Anna, Hurles Matthew E, Stalker Jim, Hargreaves Iain, Woodward Cathy E, Sweeney Mary G, Muntoni Francesco, Houlden Henry, Taanman Jan-Willem, Hanna Michael G

Abstract excerpt

The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency linked to a Leigh syndrome neurological phenotype. Unexpectedly, affected individuals harbored homozygous splice donor site mutations in NDUFA4, a gene previously assigned to...

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PMID: 23746447
DOI: 10.1016/j.celrep.2013.05.005
PMCID: PMC3701321

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