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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Exome Sequencing Identifies a <italic>DYNC1H1</italic> Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease</title><author><name sortKey="Weedon, Michael N" sort="Weedon, Michael N" uniqKey="Weedon M" first="Michael N." last="Weedon">Michael N. Weedon</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author><author><name sortKey="Hastings, Robert" sort="Hastings, Robert" uniqKey="Hastings R" first="Robert" last="Hastings">Robert Hastings</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Caswell, Richard" sort="Caswell, Richard" uniqKey="Caswell R" first="Richard" last="Caswell">Richard Caswell</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author><author><name sortKey="Xie, Weijia" sort="Xie, Weijia" uniqKey="Xie W" first="Weijia" last="Xie">Weijia Xie</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author><author><name sortKey="Paszkiewicz, Konrad" sort="Paszkiewicz, Konrad" uniqKey="Paszkiewicz K" first="Konrad" last="Paszkiewicz">Konrad Paszkiewicz</name><affiliation><nlm:aff id="aff3">Exeter Sequencing Service, Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter EX2 4SB, UK</nlm:aff></affiliation></author><author><name sortKey="Antoniadi, Thalia" sort="Antoniadi, Thalia" uniqKey="Antoniadi T" first="Thalia" last="Antoniadi">Thalia Antoniadi</name><affiliation><nlm:aff id="aff4">Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol BS10 5NB, UK</nlm:aff></affiliation></author><author><name sortKey="Williams, Maggie" sort="Williams, Maggie" uniqKey="Williams M" first="Maggie" last="Williams">Maggie Williams</name><affiliation><nlm:aff id="aff4">Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol BS10 5NB, UK</nlm:aff></affiliation></author><author><name sortKey="King, Cath" sort="King, Cath" uniqKey="King C" first="Cath" last="King">Cath King</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Greenhalgh, Lynn" sort="Greenhalgh, Lynn" uniqKey="Greenhalgh L" first="Lynn" last="Greenhalgh">Lynn Greenhalgh</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Newbury Ecob, Ruth" sort="Newbury Ecob, Ruth" uniqKey="Newbury Ecob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21820100</idno><idno type="pmc">3155164</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155164</idno><idno type="RBID">PMC:3155164</idno><idno type="doi">10.1016/j.ajhg.2011.07.002</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001E52</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E52</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Exome Sequencing Identifies a <italic>DYNC1H1</italic> Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease</title><author><name sortKey="Weedon, Michael N" sort="Weedon, Michael N" uniqKey="Weedon M" first="Michael N." last="Weedon">Michael N. Weedon</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author><author><name sortKey="Hastings, Robert" sort="Hastings, Robert" uniqKey="Hastings R" first="Robert" last="Hastings">Robert Hastings</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Caswell, Richard" sort="Caswell, Richard" uniqKey="Caswell R" first="Richard" last="Caswell">Richard Caswell</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author><author><name sortKey="Xie, Weijia" sort="Xie, Weijia" uniqKey="Xie W" first="Weijia" last="Xie">Weijia Xie</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author><author><name sortKey="Paszkiewicz, Konrad" sort="Paszkiewicz, Konrad" uniqKey="Paszkiewicz K" first="Konrad" last="Paszkiewicz">Konrad Paszkiewicz</name><affiliation><nlm:aff id="aff3">Exeter Sequencing Service, Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter EX2 4SB, UK</nlm:aff></affiliation></author><author><name sortKey="Antoniadi, Thalia" sort="Antoniadi, Thalia" uniqKey="Antoniadi T" first="Thalia" last="Antoniadi">Thalia Antoniadi</name><affiliation><nlm:aff id="aff4">Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol BS10 5NB, UK</nlm:aff></affiliation></author><author><name sortKey="Williams, Maggie" sort="Williams, Maggie" uniqKey="Williams M" first="Maggie" last="Williams">Maggie Williams</name><affiliation><nlm:aff id="aff4">Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol BS10 5NB, UK</nlm:aff></affiliation></author><author><name sortKey="King, Cath" sort="King, Cath" uniqKey="King C" first="Cath" last="King">Cath King</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Greenhalgh, Lynn" sort="Greenhalgh, Lynn" uniqKey="Greenhalgh L" first="Lynn" last="Greenhalgh">Lynn Greenhalgh</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Newbury Ecob, Ruth" sort="Newbury Ecob, Ruth" uniqKey="Newbury Ecob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name><affiliation><nlm:aff id="aff2">Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</nlm:aff></affiliation></author><author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><affiliation><nlm:aff id="aff1">Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (type 2), for which the common causes had been excluded by Sanger sequencing. Exome sequencing of three affected individuals separated by eight meioses identified a single shared novel heterozygous variant, c.917A>G, in <italic>DYNC1H1</italic>, which encodes the cytoplasmic dynein heavy chain 1 (here, <italic>novel</italic> refers to a variant that has not been seen in dbSNP131or the August 2010 release of the 1000 Genomes project). Testing of six additional affected family members showed cosegregation and a maximum LOD score of 3.6. The shared <italic>DYNC1H1</italic> gene variant is a missense substitution, p.His306Arg, at a highly conserved residue within the homodimerization domain. Three mouse models with different mutations within this domain have previously been reported with age-related progressive loss of muscle bulk and locomotor ability. Cytoplasmic dynein is a large multisubunit motor protein complex and has a key role in retrograde axonal transport in neurons. Our results highlight the importance of dynein and retrograde axonal transport in neuronal function in humans.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21820100</article-id><article-id pub-id-type="pmc">3155164</article-id><article-id pub-id-type="publisher-id">AJHG942</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2011.07.002</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Exome Sequencing Identifies a <italic>DYNC1H1</italic> Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Weedon</surname><given-names>Michael N.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Hastings</surname><given-names>Robert</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Caswell</surname><given-names>Richard</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Xie</surname><given-names>Weijia</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Paszkiewicz</surname><given-names>Konrad</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Antoniadi</surname><given-names>Thalia</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Maggie</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>King</surname><given-names>Cath</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Greenhalgh</surname><given-names>Lynn</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Newbury-Ecob</surname><given-names>Ruth</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Ellard</surname><given-names>Sian</given-names></name><email>sian.ellard@rdeft.nhs.uk</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter EX2 5AD, UK</aff><aff id="aff2"><label>2</label>Clinical Genetics Department, University Hospitals Bristol National Health Service (NHS) Foundation Trust, St. Michaels Hospital, Bristol BS2 8EG, UK</aff><aff id="aff3"><label>3</label>Exeter Sequencing Service, Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter EX2 4SB, UK</aff><aff id="aff4"><label>4</label>Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol BS10 5NB, UK</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>sian.ellard@rdeft.nhs.uk</email></corresp></author-notes><pub-date pub-type="ppub"><day>12</day><month>8</month><year>2011</year></pub-date><volume>89</volume><issue>2</issue><fpage>308</fpage><lpage>312</lpage><history><date date-type="received"><day>19</day><month>5</month><year>2011</year></date><date date-type="rev-recd"><day>4</day><month>7</month><year>2011</year></date><date date-type="accepted"><day>8</day><month>7</month><year>2011</year></date></history><permissions><copyright-statement>© 2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (type 2), for which the common causes had been excluded by Sanger sequencing. Exome sequencing of three affected individuals separated by eight meioses identified a single shared novel heterozygous variant, c.917A>G, in <italic>DYNC1H1</italic>, which encodes the cytoplasmic dynein heavy chain 1 (here, <italic>novel</italic> refers to a variant that has not been seen in dbSNP131or the August 2010 release of the 1000 Genomes project). Testing of six additional affected family members showed cosegregation and a maximum LOD score of 3.6. The shared <italic>DYNC1H1</italic> gene variant is a missense substitution, p.His306Arg, at a highly conserved residue within the homodimerization domain. Three mouse models with different mutations within this domain have previously been reported with age-related progressive loss of muscle bulk and locomotor ability. Cytoplasmic dynein is a large multisubunit motor protein complex and has a key role in retrograde axonal transport in neurons. Our results highlight the importance of dynein and retrograde axonal transport in neuronal function in humans.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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