Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Valeria Massa; Erika Fernandez-Vizarra; Saad Alshahwan; Eman Bakhsh; Paola Goffrini; Ileana Ferrero; Paolo Mereghetti; Pio D'Adamo; Paolo Gasparini; Massimo Zeviani

doi:10.1016/j.ajhg.2008.05.002

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Valeria Massa, Erika Fernandez-Vizarra, Saad Alshahwan, Eman Bakhsh, Paola Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D'Adamo, Paolo Gasparini, Massimo Zeviani

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1281-1289
Number of pages	9
Journal	American Journal of Human Genetics
Volume	82
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2008.05.002
Publication status	Published - Jun 6 2008

ASJC Scopus subject areas

Genetics

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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase. / Massa, Valeria; Fernandez-Vizarra, Erika; Alshahwan, Saad; Bakhsh, Eman; Goffrini, Paola; Ferrero, Ileana; Mereghetti, Paolo; D'Adamo, Pio; Gasparini, Paolo; Zeviani, Massimo.

In: American Journal of Human Genetics, Vol. 82, No. 6, 06.06.2008, p. 1281-1289.

Research output: Contribution to journal › Article › peer-review

Massa, V, Fernandez-Vizarra, E, Alshahwan, S, Bakhsh, E, Goffrini, P, Ferrero, I, Mereghetti, P, D'Adamo, P, Gasparini, P & Zeviani, M 2008, 'Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase', American Journal of Human Genetics, vol. 82, no. 6, pp. 1281-1289. https://doi.org/10.1016/j.ajhg.2008.05.002

Massa, Valeria ; Fernandez-Vizarra, Erika ; Alshahwan, Saad ; Bakhsh, Eman ; Goffrini, Paola ; Ferrero, Ileana ; Mereghetti, Paolo ; D'Adamo, Pio ; Gasparini, Paolo ; Zeviani, Massimo. / Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase. In: American Journal of Human Genetics. 2008 ; Vol. 82, No. 6. pp. 1281-1289.

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abstract = "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.",

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AU - Goffrini, Paola

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AB - 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.

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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

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