Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

被引：139

作者：

Massa, Valeria ^{[1
]}

Fernandez-Vizarra, Erika ^{[1
]}

Alshahwan, Saad ^{[2
]}

Bakhsh, Eman ^{[3
]}

Goffrini, Paola ^{[4
]}

Ferrero, Ileana ^{[4
]}

Mereghetti, Paolo ^{[5
]}

D'Adamo, Pio ^{[6
]}

Gasparini, Paolo ^{[6
]}

Zeviani, Massimo ^{[1
]}

机构：

[1] Neurol Inst C Besta, Dept Mol Neurogenet, Fdn IRCCS, I-20126 Milan, Italy

[2] Riyadh Mil Hosp, Dept Pediat, Riyadh 11159, Saudi Arabia

[3] Riyadh Mil Hosp, Dept Neuroradiol, Riyadh 11159, Saudi Arabia

[4] Univ Parma, Dept Genet Anthropol Evolut, I-43100 Parma, Italy

[5] Univ Milano Bicocca, Dept Biotechnol & Biosci, I-20126 Milan, Italy

[6] Univ Trieste, IRCCS Burlo Garofolo, Dept Med Genet, I-34137 Trieste, Italy

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 82卷 / 06期

关键词：

D O I：

10.1016/j.ajhg.2008.05.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.

引用

页码：1281 / 1289

页数：9

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