Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot
Identifieur interne : 006929 ( Ncbi/Curation ); précédent : 006928; suivant : 006930Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot
Auteurs : Ana Töpf [Royaume-Uni] ; Helen R. Griffin [Royaume-Uni] ; Elise Glen [Royaume-Uni] ; Rachel Soemedi [Royaume-Uni] ; Danielle L. Brown [Royaume-Uni] ; Darroch Hall [Royaume-Uni] ; Thahira J. Rahman [Royaume-Uni] ; Jyrki J. Eloranta [Suisse] ; Christoph Jüngst [Suisse, Allemagne] ; A. Graham Stuart [Royaume-Uni] ; John O'Sullivan [Royaume-Uni] ; Bernard D. Keavney [Royaume-Uni] ; Judith A. Goodship [Royaume-Uni]Source :
- PLoS ONE [ 1932-6203 ] ; 2014.
Abstract
Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF).
We sequenced the coding, 5′UTR, and 3′UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (
This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3–13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.
Url:
DOI: 10.1371/journal.pone.0095453
PubMed: 25093829
PubMed Central: 4122343
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PMC:4122343Le document en format XML
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<author><name sortKey="Topf, Ana" sort="Topf, Ana" uniqKey="Topf A" first="Ana" last="Töpf">Ana Töpf</name>
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<author><name sortKey="Griffin, Helen R" sort="Griffin, Helen R" uniqKey="Griffin H" first="Helen R." last="Griffin">Helen R. Griffin</name>
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<author><name sortKey="Soemedi, Rachel" sort="Soemedi, Rachel" uniqKey="Soemedi R" first="Rachel" last="Soemedi">Rachel Soemedi</name>
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<author><name sortKey="Brown, Danielle L" sort="Brown, Danielle L" uniqKey="Brown D" first="Danielle L." last="Brown">Danielle L. Brown</name>
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<author><name sortKey="Hall, Darroch" sort="Hall, Darroch" uniqKey="Hall D" first="Darroch" last="Hall">Darroch Hall</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
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<author><name sortKey="Rahman, Thahira J" sort="Rahman, Thahira J" uniqKey="Rahman T" first="Thahira J." last="Rahman">Thahira J. Rahman</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
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<author><name sortKey="Eloranta, Jyrki J" sort="Eloranta, Jyrki J" uniqKey="Eloranta J" first="Jyrki J." last="Eloranta">Jyrki J. Eloranta</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Clinical Pharmacology and Toxicology, University Hospital Zurich, Zurich, Switzerland</addr-line>
</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Department of Clinical Pharmacology and Toxicology, University Hospital Zurich, Zurich</wicri:regionArea>
<wicri:noRegion>Zurich</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jungst, Christoph" sort="Jungst, Christoph" uniqKey="Jungst C" first="Christoph" last="Jüngst">Christoph Jüngst</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Clinical Pharmacology and Toxicology, University Hospital Zurich, Zurich, Switzerland</addr-line>
</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Department of Clinical Pharmacology and Toxicology, University Hospital Zurich, Zurich</wicri:regionArea>
<wicri:noRegion>Zurich</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Medicine II, Saarland University Medical Center, Homburg, Germany</addr-line>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Medicine II, Saarland University Medical Center, Homburg</wicri:regionArea>
<wicri:noRegion>Homburg</wicri:noRegion>
<wicri:noRegion>Homburg</wicri:noRegion>
<wicri:noRegion>Homburg</wicri:noRegion>
</affiliation>
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<author><name sortKey="Stuart, A Graham" sort="Stuart, A Graham" uniqKey="Stuart A" first="A. Graham" last="Stuart">A. Graham Stuart</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Bristol Royal Hospital for Children, Bristol, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Bristol Royal Hospital for Children, Bristol</wicri:regionArea>
<wicri:noRegion>Bristol</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="O Sullivan, John" sort="O Sullivan, John" uniqKey="O Sullivan J" first="John" last="O'Sullivan">John O'Sullivan</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><addr-line>Paediatric Cardiology, Freeman Hospital Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Paediatric Cardiology, Freeman Hospital Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Keavney, Bernard D" sort="Keavney, Bernard D" uniqKey="Keavney B" first="Bernard D." last="Keavney">Bernard D. Keavney</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff6"><addr-line>Institute of Cardiovascular Sciences, The University of Manchester, Manchester, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Cardiovascular Sciences, The University of Manchester, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
<settlement type="city">Manchester</settlement>
</placeName>
<orgName type="university">Université de Manchester</orgName>
</affiliation>
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<author><name sortKey="Goodship, Judith A" sort="Goodship, Judith A" uniqKey="Goodship J" first="Judith A." last="Goodship">Judith A. Goodship</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
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<series><title level="j">PLoS ONE</title>
<idno type="eISSN">1932-6203</idno>
<imprint><date when="2014">2014</date>
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<front><div type="abstract" xml:lang="en"><sec><title>Objective</title>
<p>Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF).</p>
</sec>
<sec><title>Methods and Results</title>
<p>We sequenced the coding, 5′UTR, and 3′UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (<italic>NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH</italic>
, <italic>FOXA2</italic>
and <italic>TBX1</italic>
) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in <italic>in vitro</italic>
reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in <italic>in vitro</italic>
reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.</p>
</sec>
<sec><title>Significance</title>
<p>This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3–13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.</p>
</sec>
</div>
</front>
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</author>
<author><name sortKey="Geiger, E" uniqKey="Geiger E">E Geiger</name>
</author>
<author><name sortKey="Benson, Dw" uniqKey="Benson D">DW Benson</name>
</author>
</analytic>
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<biblStruct><analytic><author><name sortKey="Granados Riveron, Jt" uniqKey="Granados Riveron J">JT Granados-Riveron</name>
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</analytic>
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<author><name sortKey="Meilhac, S" uniqKey="Meilhac S">S Meilhac</name>
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</analytic>
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