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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Homozygous splice mutation in <italic>CWF19L1</italic> in a Turkish family with recessive ataxia syndrome</title><author><name sortKey="Burns, Randi" sort="Burns, Randi" uniqKey="Burns R" first="Randi" last="Burns">Randi Burns</name></author><author><name sortKey="Majczenko, Karen" sort="Majczenko, Karen" uniqKey="Majczenko K" first="Karen" last="Majczenko">Karen Majczenko</name></author><author><name sortKey="Xu, Jishu" sort="Xu, Jishu" uniqKey="Xu J" first="Jishu" last="Xu">Jishu Xu</name></author><author><name sortKey="Peng, Weiping" sort="Peng, Weiping" uniqKey="Peng W" first="Weiping" last="Peng">Weiping Peng</name></author><author><name sortKey="Yapici, Zuhal" sort="Yapici, Zuhal" uniqKey="Yapici Z" first="Zuhal" last="Yapici">Zuhal Yapici</name></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name></author><author><name sortKey="Li, Jun Z" sort="Li, Jun Z" uniqKey="Li J" first="Jun Z." last="Li">Jun Z. Li</name></author><author><name sortKey="Burmeister, Margit" sort="Burmeister, Margit" uniqKey="Burmeister M" first="Margit" last="Burmeister">Margit Burmeister</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25361784</idno><idno type="pmc">4276403</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276403</idno><idno type="RBID">PMC:4276403</idno><idno type="doi">10.1212/WNL.0000000000001053</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000620</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000620</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Homozygous splice mutation in <italic>CWF19L1</italic> in a Turkish family with recessive ataxia syndrome</title><author><name sortKey="Burns, Randi" sort="Burns, Randi" uniqKey="Burns R" first="Randi" last="Burns">Randi Burns</name></author><author><name sortKey="Majczenko, Karen" sort="Majczenko, Karen" uniqKey="Majczenko K" first="Karen" last="Majczenko">Karen Majczenko</name></author><author><name sortKey="Xu, Jishu" sort="Xu, Jishu" uniqKey="Xu J" first="Jishu" last="Xu">Jishu Xu</name></author><author><name sortKey="Peng, Weiping" sort="Peng, Weiping" uniqKey="Peng W" first="Weiping" last="Peng">Weiping Peng</name></author><author><name sortKey="Yapici, Zuhal" sort="Yapici, Zuhal" uniqKey="Yapici Z" first="Zuhal" last="Yapici">Zuhal Yapici</name></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name></author><author><name sortKey="Li, Jun Z" sort="Li, Jun Z" uniqKey="Li J" first="Jun Z." last="Li">Jun Z. Li</name></author><author><name sortKey="Burmeister, Margit" sort="Burmeister, Margit" uniqKey="Burmeister M" first="Margit" last="Burmeister">Margit Burmeister</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.</p></sec><sec><title>Methods:</title><p>Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription–PCR and immunoblotting were used to determine the functional consequences of the gene variant. A zebrafish model was developed using morpholino-mediated knockdown.</p></sec><sec><title>Results:</title><p>We identified a homozygous mutation at the invariant +1 position (c.964+1G>A) in intron 9 of the <italic>CWF19L1</italic> (complexed with cdc5 protein 19-like 1) gene. This mutation is absent in >6,500 European and African American individuals and 200 Turkish control DNAs. The mutation causes exon skipping, reduction in messenger RNA levels, and protein loss in cell lines of affected individuals. Morpholino-mediated knockdown in a zebrafish model demonstrates that loss of the evolutionarily highly conserved <italic>CWF19L1</italic>, whose normal biological function is unknown, alters cerebellar morphology and causes movement abnormalities.</p></sec><sec><title>Conclusions:</title><p>Our results suggest that <italic>CWF19L1</italic> mutations may be a novel cause of recessive ataxia with developmental delay. Our research may help with diagnosis, especially in Turkey, identify causes of other ataxias, and may lead to novel therapies.</p></sec></div></front></TEI><pmc article-type="research-article"><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">Neurology</journal-id><journal-id journal-id-type="iso-abbrev">Neurology</journal-id><journal-id journal-id-type="hwp">neurology</journal-id><journal-id journal-id-type="publisher-id">neur</journal-id><journal-id journal-id-type="pmc">neurology</journal-id><journal-id journal-id-type="publisher-id">NEUROLOGY</journal-id><journal-title-group><journal-title>Neurology</journal-title></journal-title-group><issn pub-type="ppub">0028-3878</issn><issn pub-type="epub">1526-632X</issn><publisher><publisher-name>Lippincott Williams & Wilkins</publisher-name><publisher-loc>Hagerstown, MD</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25361784</article-id><article-id pub-id-type="pmc">4276403</article-id><article-id pub-id-type="publisher-id">NEUROLOGY2014589879</article-id><article-id pub-id-type="doi">10.1212/WNL.0000000000001053</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>91</subject><subject>312</subject><subject>163</subject><subject>228</subject><subject>229</subject></subj-group><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Homozygous splice mutation in <italic>CWF19L1</italic> in a Turkish family with recessive ataxia syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Burns</surname><given-names>Randi</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Majczenko</surname><given-names>Karen</given-names></name><degrees>MD</degrees><xref ref-type="author-notes" rid="fn1">†</xref><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Xu</surname><given-names>Jishu</given-names></name><degrees>MA</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Peng</surname><given-names>Weiping</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Yapici</surname><given-names>Zuhal</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Dowling</surname><given-names>James J.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Valerion Therapeutics (unrestricted educational gift)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) NIH 1R03AR062810 PI 3 years (2) NIH 1K08AR054835 PI 5 years</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) University of Michigan Department of Pediatrics</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Muscular Dystrophy Association (MDA 186999) (2) CureCMD (3) Joshua Frase Foundation (4) Team Joseph</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Li</surname><given-names>Jun Z.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>Human Genomics, Editorial Board, 2013-Scientific Reports, Editorial Board and managing editor, 2014-PLOS Genetics, Guest Editor, 2013</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NIH R01NS078560-01, co-PI, 03/01/12 � 02/29/16</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Ellison Medical Foundation IMHRO (International Mental Health Research Organization)</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Burmeister</surname><given-names>Margit</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Scientific advisory board, American Foundation for Suicide Prevention; Board member of International Society for Psychiatric Genetics</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>While I don't think these are relevant, but they do fall under your disclosure directions. I have received travel and honorarium for speaking at several foreign institutions or meetings: CINP (Collegium Internationale Neuropsychologicum) Society of Biological Psychiatry; Humboldt Foundation, Germany; The Partner institute in Computational Biology (PICB); Shanghai, China, Shanghai Jiao Tong University; National Yang Ming University, Taipei, Taiwan; Zhejiang University Medical School, Hangzhou, China; National Ataxia Foundation to attend membership meeting; Genomics of Complex Disorders, Oxford University (co-organized by Nature Genetics and the Wellcome Trust); Kunming Medical University; Banbury conference on �Psychiatric Genomics: Current Status, Future Strategies�</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>International Journal of Neuropsychiatric Genetics Frontiers in Psychiatry Frontiers in Behavioral and Psychiatric Genetics Genes, Brain & Behavior Clinical and Translational Genomics, Section Clinical Genomics</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>US Patent 7,267,954. Burmeister Margit. Methods for the detection of variant Cayman Ataxia nucleic acids (2007) This patent was abandoned (given up) around 2012.</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>R21 DC010074-01 NIH/NIDCID (PI)02/12/09-01/31/11 R01 HD033487 (PI E. Lozoff, my role co-inv) 12/1/06-11/30/11 NIH -R21-DH-064983-01 (PI Polk, my role co-inv) 04/01/10-03/31/12 NIH - EUREKA (PI Zubieta, my role co-inv) 09/16/09-06/30/13 NIH � HD054767 (PI Reed, my role co-inv) 5/1/2008-3/30/2012 1R01DA027261-01 NIAAA (Zucker PI, role co-I) 4/1/2009- 3/31/2014 NSF-IGERT (co-PI) 7/1/09-6/30/14; no effort paid NIMH 1-R01-MH-094145-01-A1 (PI Boehnke, co-I) 08/01/11-6/30/2014 NIH-NINDS R01 NS078560 (PIs Burmeister/Li) 3/1/2012-2/28/2017 NIH � NINDS R21 (PIs Guan/Burmeister) 4/1/2013- 3/30/2015 NIH-NS078560-S1 � Minority Supplement NIMH K23-MH-092648-01-A1 (PI Mickey) 2/1/2012-1/31/2017</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>The Nancy Pritzker Neuropsychiatric Disorders Research Fund (as one of >40 scientists involved)</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><aff>From the Program in Cellular and Molecular Biology (R.B., M.B.), Molecular & Behavioral Neuroscience Institute (R.B., K.M., M.B.), Departments of Human Genetics (J.X., W.P., J.Z.L., M.B.), Neurology (J.J.D.), Pediatrics (J.J.D.), and Psychiatry (M.B.), University of Michigan Medical Center, Ann Arbor; and Department of Neurology (Z.Y.), Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey. J.J.D. is currently affiliated with the Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Departments of Pediatrics and Molecular Genetics, University of Toronto, Canada.</aff></contrib-group><author-notes><corresp>Correspondence to Dr. Burmeister: <email>margit@umich.edu</email></corresp><fn fn-type="other" id="fn1"><label>†</label><p>This article is dedicated to the memory of Karen Majczenko, MD, who started this project but passed away at age 38 on November 11, 2013.</p></fn><fn fn-type="financial-disclosure"><p>Go to <ext-link ext-link-type="uri" xlink:href="http://neurology.org/">Neurology.org</ext-link> for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.</p></fn></author-notes><pub-date pub-type="ppub"><day>2</day><month>12</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>2</day><month>12</month><year>2015</year></pub-date><pmc-comment> PMC Release delay is 12 months and 0 days and was based on the
<volume>83</volume><issue>23</issue><fpage>2175</fpage><lpage>2182</lpage><history><date date-type="received"><day>14</day><month>4</month><year>2014</year></date><date date-type="accepted"><day>02</day><month>9</month><year>2014</year></date></history><permissions><copyright-statement>© 2014 American Academy of Neurology</copyright-statement><copyright-year>2014</copyright-year><copyright-holder>American Academy of Neurology</copyright-holder></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="NEUROLOGY2014589879.pdf"></self-uri><abstract><sec><title>Objective:</title><p>To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.</p></sec><sec><title>Methods:</title><p>Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription–PCR and immunoblotting were used to determine the functional consequences of the gene variant. A zebrafish model was developed using morpholino-mediated knockdown.</p></sec><sec><title>Results:</title><p>We identified a homozygous mutation at the invariant +1 position (c.964+1G>A) in intron 9 of the <italic>CWF19L1</italic> (complexed with cdc5 protein 19-like 1) gene. This mutation is absent in >6,500 European and African American individuals and 200 Turkish control DNAs. The mutation causes exon skipping, reduction in messenger RNA levels, and protein loss in cell lines of affected individuals. Morpholino-mediated knockdown in a zebrafish model demonstrates that loss of the evolutionarily highly conserved <italic>CWF19L1</italic>, whose normal biological function is unknown, alters cerebellar morphology and causes movement abnormalities.</p></sec><sec><title>Conclusions:</title><p>Our results suggest that <italic>CWF19L1</italic> mutations may be a novel cause of recessive ataxia with developmental delay. Our research may help with diagnosis, especially in Turkey, identify causes of other ataxias, and may lead to novel therapies.</p></sec></abstract><custom-meta-group><custom-meta><meta-name>special-property</meta-name><meta-value>Video</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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