Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and I...

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Main Authors:	Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Format:	Article
Language:	English
Published:	Elsevier 2017-09-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	CoQ10 deficiency CoQ4 Infantile cardiomyopathy Encephalomyopathy Whole exome sequencing
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426917300368

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spelling	doaj-753e2cc8a6654c369b7d2bc8b9a8c4b82020-11-25T00:07:56ZengElsevierMolecular Genetics and Metabolism Reports2214-42692017-09-0112C232710.1016/j.ymgmr.2017.05.001Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiencyNeal Sondheimer0Stacy Hewson1Jessie M. Cameron2Gino R. Somers3Jane Dunning Broadbent4Marcello Ziosi5Catarina Maria Quinzii6Ali B. Naini7Division of Clinical and Biochemical Genetics, The Hospital for Sick Children, CanadaDivision of Clinical and Biochemical Genetics, The Hospital for Sick Children, CanadaDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, CanadaDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, CanadaDivision of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, United StatesDepartment of Neurology, Columbia University Medical Center, United StatesDepartment of Neurology, Columbia University Medical Center, United StatesDivision of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, United StatesCoenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis. To date, mutations in COQ1 (PDSS1 and PDSS2), COQ2, COQ4, COQ6, COQ7, COQ8A/ADCK3, COQ8B/ADCK4, and COQ9 genes have been identified in patients with primary form of CoQ10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ10 deficiency.http://www.sciencedirect.com/science/article/pii/S2214426917300368CoQ10 deficiencyCoQ4Infantile cardiomyopathyEncephalomyopathyWhole exome sequencing
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Neal Sondheimer Stacy Hewson Jessie M. Cameron Gino R. Somers Jane Dunning Broadbent Marcello Ziosi Catarina Maria Quinzii Ali B. Naini
spellingShingle	Neal Sondheimer Stacy Hewson Jessie M. Cameron Gino R. Somers Jane Dunning Broadbent Marcello Ziosi Catarina Maria Quinzii Ali B. Naini Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency Molecular Genetics and Metabolism Reports CoQ10 deficiency CoQ4 Infantile cardiomyopathy Encephalomyopathy Whole exome sequencing
author_facet	Neal Sondheimer Stacy Hewson Jessie M. Cameron Gino R. Somers Jane Dunning Broadbent Marcello Ziosi Catarina Maria Quinzii Ali B. Naini
author_sort	Neal Sondheimer
title	Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
title_short	Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
title_full	Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
title_fullStr	Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
title_full_unstemmed	Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
title_sort	novel recessive mutations in coq4 cause severe infantile cardiomyopathy and encephalopathy associated with coq10 deficiency
publisher	Elsevier
series	Molecular Genetics and Metabolism Reports
issn	2214-4269
publishDate	2017-09-01
description	Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis. To date, mutations in COQ1 (PDSS1 and PDSS2), COQ2, COQ4, COQ6, COQ7, COQ8A/ADCK3, COQ8B/ADCK4, and COQ9 genes have been identified in patients with primary form of CoQ10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ10 deficiency.
topic	CoQ10 deficiency CoQ4 Infantile cardiomyopathy Encephalomyopathy Whole exome sequencing
url	http://www.sciencedirect.com/science/article/pii/S2214426917300368
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Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

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