IronSulferCluV1, Main, Exploration, bibRecord, 000171

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Identifieur interne : 000171 ( Main/Exploration ); précédent : 000170; suivant : 000172

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Auteurs : Mirjana Gusic [Allemagne] ; Gudrun Schottmann [Allemagne] ; René G. Feichtinger [Autriche] ; Chen Du [Allemagne] ; Caroline Scholz [Allemagne] ; Matias Wagner [Allemagne] ; Johannes A. Mayr [Autriche] ; Chae-Young Lee [Allemagne] ; Vicente A. Yépez [Allemagne] ; Norbert Lorenz [Allemagne] ; Susanne Morales-Gonzalez [Allemagne] ; Daan M. Panneman [Pays-Bas] ; Agnès Rötig [France] ; Richard J T. Rodenburg [Pays-Bas] ; Saskia B. Wortmann [Autriche] ; Holger Prokisch [Allemagne] ; Markus Schuelke [Allemagne]

Source :

American journal of human genetics [ 1537-6605 ] ; 2020.

RBID : pubmed:31883641

Descripteurs français

KwdFr :
- Allèles (MeSH), Alopécie (anatomopathologie), Alopécie (génétique), Cardiomyopathies (anatomopathologie), Cardiomyopathies (génétique), Complexe III de la chaîne respiratoire (déficit), Complexe III de la chaîne respiratoire (génétique), Enfant (MeSH), Ferrosulfoprotéines (génétique), Humains (MeSH), Maladies mitochondriales (anatomopathologie), Maladies mitochondriales (génétique), Mutation (MeSH), Mâle (MeSH), Nourrisson (MeSH), Pedigree (MeSH).
MESH :
- anatomopathologie : Alopécie, Cardiomyopathies, Maladies mitochondriales.
- déficit : Complexe III de la chaîne respiratoire.
- génétique : Alopécie, Cardiomyopathies, Complexe III de la chaîne respiratoire, Ferrosulfoprotéines, Maladies mitochondriales.
- Allèles, Enfant, Humains, Mutation, Mâle, Nourrisson, Pedigree.

English descriptors

KwdEn :
- Alleles (MeSH), Alopecia (genetics), Alopecia (pathology), Cardiomyopathies (genetics), Cardiomyopathies (pathology), Child (MeSH), Electron Transport Complex III (deficiency), Electron Transport Complex III (genetics), Humans (MeSH), Infant (MeSH), Iron-Sulfur Proteins (genetics), Male (MeSH), Mitochondrial Diseases (genetics), Mitochondrial Diseases (pathology), Mutation (MeSH), Pedigree (MeSH).
MESH :
- chemical , deficiency : Electron Transport Complex III.
- genetics : Alopecia, Cardiomyopathies, Electron Transport Complex III, Iron-Sulfur Proteins, Mitochondrial Diseases.
- pathology : Alopecia, Cardiomyopathies, Mitochondrial Diseases.
- Alleles, Child, Humans, Infant, Male, Mutation, Pedigree.

Abstract

Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals. Affected children presented with low CIII activity in fibroblasts, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, and alopecia totalis. Studies in proband-derived fibroblasts showed a deleterious effect of the variants on UQCRFS1 protein abundance, mitochondrial import, CIII assembly, and cellular respiration. Complementation studies via lentiviral transduction and overexpression of wild-type UQCRFS1 restored mitochondrial function and rescued the cellular phenotype, confirming UQCRFS1 variants as causative for CIII deficiency. We demonstrate that mutations in UQCRFS1 can cause mitochondrial disease, and our results thereby expand the clinical and mutational spectrum of CIII deficiencies.

DOI: 10.1016/j.ajhg.2019.12.005
PubMed: 31883641
PubMed Central: PMC7042493

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.</title>
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<country xml:lang="fr">Allemagne</country>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Feichtinger, Rene G" sort="Feichtinger, Rene G" uniqKey="Feichtinger R" first="René G" last="Feichtinger">René G. Feichtinger</name>
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<author><name sortKey="Du, Chen" sort="Du, Chen" uniqKey="Du C" first="Chen" last="Du">Chen Du</name>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Scholz, Caroline" sort="Scholz, Caroline" uniqKey="Scholz C" first="Caroline" last="Scholz">Caroline Scholz</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover</wicri:regionArea>
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<author><name sortKey="Wagner, Matias" sort="Wagner, Matias" uniqKey="Wagner M" first="Matias" last="Wagner">Matias Wagner</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
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<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
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<author><name sortKey="Mayr, Johannes A" sort="Mayr, Johannes A" uniqKey="Mayr J" first="Johannes A" last="Mayr">Johannes A. Mayr</name>
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<country xml:lang="fr">Autriche</country>
<wicri:regionArea>University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg</wicri:regionArea>
<wicri:noRegion>5020 Salzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lee, Chae Young" sort="Lee, Chae Young" uniqKey="Lee C" first="Chae-Young" last="Lee">Chae-Young Lee</name>
<affiliation wicri:level="3"><nlm:affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yepez, Vicente A" sort="Yepez, Vicente A" uniqKey="Yepez V" first="Vicente A" last="Yépez">Vicente A. Yépez</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Informatics, Technical University of Munich, 81371 Garching, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Informatics, Technical University of Munich, 81371 Garching</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Lorenz, Norbert" sort="Lorenz, Norbert" uniqKey="Lorenz N" first="Norbert" last="Lorenz">Norbert Lorenz</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Cardiology, Municipal Hospital Dresden, 01307 Dresden, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Cardiology, Municipal Hospital Dresden, 01307 Dresden</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Dresde</region>
<settlement type="city">Dresde</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Morales Gonzalez, Susanne" sort="Morales Gonzalez, Susanne" uniqKey="Morales Gonzalez S" first="Susanne" last="Morales-Gonzalez">Susanne Morales-Gonzalez</name>
<affiliation wicri:level="3"><nlm:affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Panneman, Daan M" sort="Panneman, Daan M" uniqKey="Panneman D" first="Daan M" last="Panneman">Daan M. Panneman</name>
<affiliation wicri:level="1"><nlm:affiliation>Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
<affiliation wicri:level="4"><nlm:affiliation>UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Rodenburg, Richard J T" sort="Rodenburg, Richard J T" uniqKey="Rodenburg R" first="Richard J T" last="Rodenburg">Richard J T. Rodenburg</name>
<affiliation wicri:level="1"><nlm:affiliation>Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wortmann, Saskia B" sort="Wortmann, Saskia B" uniqKey="Wortmann S" first="Saskia B" last="Wortmann">Saskia B. Wortmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg</wicri:regionArea>
<wicri:noRegion>5020 Salzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schuelke, Markus" sort="Schuelke, Markus" uniqKey="Schuelke M" first="Markus" last="Schuelke">Markus Schuelke</name>
<affiliation wicri:level="3"><nlm:affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address: markus.schuelke@charite.de.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of human genetics</title>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2020" type="published">2020</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles (MeSH)</term>
<term>Alopecia (genetics)</term>
<term>Alopecia (pathology)</term>
<term>Cardiomyopathies (genetics)</term>
<term>Cardiomyopathies (pathology)</term>
<term>Child (MeSH)</term>
<term>Electron Transport Complex III (deficiency)</term>
<term>Electron Transport Complex III (genetics)</term>
<term>Humans (MeSH)</term>
<term>Infant (MeSH)</term>
<term>Iron-Sulfur Proteins (genetics)</term>
<term>Male (MeSH)</term>
<term>Mitochondrial Diseases (genetics)</term>
<term>Mitochondrial Diseases (pathology)</term>
<term>Mutation (MeSH)</term>
<term>Pedigree (MeSH)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Allèles (MeSH)</term>
<term>Alopécie (anatomopathologie)</term>
<term>Alopécie (génétique)</term>
<term>Cardiomyopathies (anatomopathologie)</term>
<term>Cardiomyopathies (génétique)</term>
<term>Complexe III de la chaîne respiratoire (déficit)</term>
<term>Complexe III de la chaîne respiratoire (génétique)</term>
<term>Enfant (MeSH)</term>
<term>Ferrosulfoprotéines (génétique)</term>
<term>Humains (MeSH)</term>
<term>Maladies mitochondriales (anatomopathologie)</term>
<term>Maladies mitochondriales (génétique)</term>
<term>Mutation (MeSH)</term>
<term>Mâle (MeSH)</term>
<term>Nourrisson (MeSH)</term>
<term>Pedigree (MeSH)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Electron Transport Complex III</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Alopécie</term>
<term>Cardiomyopathies</term>
<term>Maladies mitochondriales</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Complexe III de la chaîne respiratoire</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alopecia</term>
<term>Cardiomyopathies</term>
<term>Electron Transport Complex III</term>
<term>Iron-Sulfur Proteins</term>
<term>Mitochondrial Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Alopécie</term>
<term>Cardiomyopathies</term>
<term>Complexe III de la chaîne respiratoire</term>
<term>Ferrosulfoprotéines</term>
<term>Maladies mitochondriales</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Alopecia</term>
<term>Cardiomyopathies</term>
<term>Mitochondrial Diseases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Child</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Allèles</term>
<term>Enfant</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pedigree</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals. Affected children presented with low CIII activity in fibroblasts, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, and alopecia totalis. Studies in proband-derived fibroblasts showed a deleterious effect of the variants on UQCRFS1 protein abundance, mitochondrial import, CIII assembly, and cellular respiration. Complementation studies via lentiviral transduction and overexpression of wild-type UQCRFS1 restored mitochondrial function and rescued the cellular phenotype, confirming UQCRFS1 variants as causative for CIII deficiency. We demonstrate that mutations in UQCRFS1 can cause mitochondrial disease, and our results thereby expand the clinical and mutational spectrum of CIII deficiencies.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">31883641</PMID>
<DateCompleted><Year>2020</Year>
<Month>04</Month>
<Day>17</Day>
</DateCompleted>
<DateRevised><Year>2020</Year>
<Month>08</Month>
<Day>24</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>106</Volume>
<Issue>1</Issue>
<PubDate><Year>2020</Year>
<Month>01</Month>
<Day>02</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am J Hum Genet</ISOAbbreviation>
</Journal>
<ArticleTitle>Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.</ArticleTitle>
<Pagination><MedlinePgn>102-111</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(19)30469-0</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2019.12.005</ELocationID>
<Abstract><AbstractText>Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals. Affected children presented with low CIII activity in fibroblasts, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, and alopecia totalis. Studies in proband-derived fibroblasts showed a deleterious effect of the variants on UQCRFS1 protein abundance, mitochondrial import, CIII assembly, and cellular respiration. Complementation studies via lentiviral transduction and overexpression of wild-type UQCRFS1 restored mitochondrial function and rescued the cellular phenotype, confirming UQCRFS1 variants as causative for CIII deficiency. We demonstrate that mutations in UQCRFS1 can cause mitochondrial disease, and our results thereby expand the clinical and mutational spectrum of CIII deficiencies.</AbstractText>
<CopyrightInformation>Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gusic</LastName>
<ForeName>Mirjana</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schottmann</LastName>
<ForeName>Gudrun</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Feichtinger</LastName>
<ForeName>René G</ForeName>
<Initials>RG</Initials>
<AffiliationInfo><Affiliation>University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Du</LastName>
<ForeName>Chen</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Scholz</LastName>
<ForeName>Caroline</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wagner</LastName>
<ForeName>Matias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mayr</LastName>
<ForeName>Johannes A</ForeName>
<Initials>JA</Initials>
<AffiliationInfo><Affiliation>University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lee</LastName>
<ForeName>Chae-Young</ForeName>
<Initials>CY</Initials>
<AffiliationInfo><Affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yépez</LastName>
<ForeName>Vicente A</ForeName>
<Initials>VA</Initials>
<AffiliationInfo><Affiliation>Department of Informatics, Technical University of Munich, 81371 Garching, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lorenz</LastName>
<ForeName>Norbert</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Cardiology, Municipal Hospital Dresden, 01307 Dresden, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Morales-Gonzalez</LastName>
<ForeName>Susanne</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Panneman</LastName>
<ForeName>Daan M</ForeName>
<Initials>DM</Initials>
<AffiliationInfo><Affiliation>Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rötig</LastName>
<ForeName>Agnès</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rodenburg</LastName>
<ForeName>Richard J T</ForeName>
<Initials>RJT</Initials>
<AffiliationInfo><Affiliation>Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wortmann</LastName>
<ForeName>Saskia B</ForeName>
<Initials>SB</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Prokisch</LastName>
<ForeName>Holger</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schuelke</LastName>
<ForeName>Markus</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address: markus.schuelke@charite.de.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>I 2741</GrantID>
<Acronym>FWF_</Acronym>
<Agency>Austrian Science Fund FWF</Agency>
<Country>Austria</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2019</Year>
<Month>12</Month>
<Day>26</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Am J Hum Genet</MedlineTA>
<NlmUniqueID>0370475</NlmUniqueID>
<ISSNLinking>0002-9297</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D007506">Iron-Sulfur Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C579514">UQCRFS1 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 7.1.1.8</RegistryNumber>
<NameOfSubstance UI="D014450">Electron Transport Complex III</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C565128">Mitochondrial Complex III Deficiency</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000505" MajorTopicYN="N">Alopecia</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009202" MajorTopicYN="N">Cardiomyopathies</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D014450" MajorTopicYN="N">Electron Transport Complex III</DescriptorName>
<QualifierName UI="Q000172" MajorTopicYN="Y">deficiency</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007506" MajorTopicYN="N">Iron-Sulfur Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D028361" MajorTopicYN="N">Mitochondrial Diseases</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName>
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<MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName>
</MeshHeading>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">Q-cycle</Keyword>
<Keyword MajorTopicYN="Y">Rieske iron-sulfur protein</Keyword>
<Keyword MajorTopicYN="Y">alopecia</Keyword>
<Keyword MajorTopicYN="Y">cardiomyopathy</Keyword>
<Keyword MajorTopicYN="Y">microscale respiratory</Keyword>
<Keyword MajorTopicYN="Y">mitochondrial complex III deficiency</Keyword>
<Keyword MajorTopicYN="Y">mitochondrial import sequence</Keyword>
<Keyword MajorTopicYN="Y">mitochondriopathy</Keyword>
<Keyword MajorTopicYN="Y">mutation</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2019</Year>
<Month>07</Month>
<Day>16</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2019</Year>
<Month>12</Month>
<Day>05</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2019</Year>
<Month>12</Month>
<Day>31</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2020</Year>
<Month>4</Month>
<Day>18</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2019</Year>
<Month>12</Month>
<Day>30</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">31883641</ArticleId>
<ArticleId IdType="pii">S0002-9297(19)30469-0</ArticleId>
<ArticleId IdType="doi">10.1016/j.ajhg.2019.12.005</ArticleId>
<ArticleId IdType="pmc">PMC7042493</ArticleId>
</ArticleIdList>
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<affiliations><list><country><li>Allemagne</li>
<li>Autriche</li>
<li>France</li>
<li>Pays-Bas</li>
</country>
<region><li>Basse-Saxe</li>
<li>Bavière</li>
<li>Berlin</li>
<li>District de Dresde</li>
<li>District de Haute-Bavière</li>
<li>Gueldre</li>
<li>Saxe (Land)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Dresde</li>
<li>Hanovre</li>
<li>Munich</li>
<li>Nimègue</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Louis-et-Maximilien de Munich</li>
<li>Université Paris-Descartes</li>
</orgName>
</list>
<tree><country name="Allemagne"><region name="Bavière"><name sortKey="Gusic, Mirjana" sort="Gusic, Mirjana" uniqKey="Gusic M" first="Mirjana" last="Gusic">Mirjana Gusic</name>
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<name sortKey="Lorenz, Norbert" sort="Lorenz, Norbert" uniqKey="Lorenz N" first="Norbert" last="Lorenz">Norbert Lorenz</name>
<name sortKey="Morales Gonzalez, Susanne" sort="Morales Gonzalez, Susanne" uniqKey="Morales Gonzalez S" first="Susanne" last="Morales-Gonzalez">Susanne Morales-Gonzalez</name>
<name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<name sortKey="Scholz, Caroline" sort="Scholz, Caroline" uniqKey="Scholz C" first="Caroline" last="Scholz">Caroline Scholz</name>
<name sortKey="Schottmann, Gudrun" sort="Schottmann, Gudrun" uniqKey="Schottmann G" first="Gudrun" last="Schottmann">Gudrun Schottmann</name>
<name sortKey="Schuelke, Markus" sort="Schuelke, Markus" uniqKey="Schuelke M" first="Markus" last="Schuelke">Markus Schuelke</name>
<name sortKey="Wagner, Matias" sort="Wagner, Matias" uniqKey="Wagner M" first="Matias" last="Wagner">Matias Wagner</name>
<name sortKey="Yepez, Vicente A" sort="Yepez, Vicente A" uniqKey="Yepez V" first="Vicente A" last="Yépez">Vicente A. Yépez</name>
</country>
<country name="Autriche"><noRegion><name sortKey="Feichtinger, Rene G" sort="Feichtinger, Rene G" uniqKey="Feichtinger R" first="René G" last="Feichtinger">René G. Feichtinger</name>
</noRegion>
<name sortKey="Mayr, Johannes A" sort="Mayr, Johannes A" uniqKey="Mayr J" first="Johannes A" last="Mayr">Johannes A. Mayr</name>
<name sortKey="Wortmann, Saskia B" sort="Wortmann, Saskia B" uniqKey="Wortmann S" first="Saskia B" last="Wortmann">Saskia B. Wortmann</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Panneman, Daan M" sort="Panneman, Daan M" uniqKey="Panneman D" first="Daan M" last="Panneman">Daan M. Panneman</name>
</region>
<name sortKey="Rodenburg, Richard J T" sort="Rodenburg, Richard J T" uniqKey="Rodenburg R" first="Richard J T" last="Rodenburg">Richard J T. Rodenburg</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

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