CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Identifieur interne : 000D40 ( Pmc/Curation ); précédent : 000D39; suivant : 000D41CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Auteurs : Arijit Mukhopadhyay [Pays-Bas, Inde] ; Jamie M. Kramer [Pays-Bas] ; Gerard Merkx [Pays-Bas] ; Dorien Lugtenberg [Pays-Bas] ; Dominique F. Smeets [Pays-Bas] ; Merel A. W. Oortveld [Pays-Bas] ; Ellen A. W. Blokland [Pays-Bas] ; Jyoti Agrawal [Inde] ; Annette Schenck [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Erik Huys [Pays-Bas] ; Eric F. Schoenmakers [Pays-Bas] ; Ad Geurts Van Kessel [Pays-Bas] ; C. Erik Van Nouhuys [Pays-Bas] ; Frans P. M. Cremers [Pays-Bas]Source :
- Human Genetics [ 0340-6717 ] ; 2010.
Abstract
Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21. Fluorescence in situ hybridization analysis narrowed down the region around the breakpoints, and the breakpoint at 6q21 was found to disrupt the
Url:
DOI: 10.1007/s00439-010-0848-x
PubMed: 20563892
PubMed Central: 2921488
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000D41
Links to Exploration step
PMC:2921488Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>CDK19</italic>
is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation</title>
<author><name sortKey="Mukhopadhyay, Arijit" sort="Mukhopadhyay, Arijit" uniqKey="Mukhopadhyay A" first="Arijit" last="Mukhopadhyay">Arijit Mukhopadhyay</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, 110007 India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kramer, Jamie M" sort="Kramer, Jamie M" uniqKey="Kramer J" first="Jamie M." last="Kramer">Jamie M. Kramer</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Merkx, Gerard" sort="Merkx, Gerard" uniqKey="Merkx G" first="Gerard" last="Merkx">Gerard Merkx</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Smeets, Dominique F" sort="Smeets, Dominique F" uniqKey="Smeets D" first="Dominique F." last="Smeets">Dominique F. Smeets</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Oortveld, Merel A W" sort="Oortveld, Merel A W" uniqKey="Oortveld M" first="Merel A. W." last="Oortveld">Merel A. W. Oortveld</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Blokland, Ellen A W" sort="Blokland, Ellen A W" uniqKey="Blokland E" first="Ellen A. W." last="Blokland">Ellen A. W. Blokland</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Agrawal, Jyoti" sort="Agrawal, Jyoti" uniqKey="Agrawal J" first="Jyoti" last="Agrawal">Jyoti Agrawal</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, 110007 India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Huys, Erik" sort="Huys, Erik" uniqKey="Huys E" first="Erik" last="Huys">Erik Huys</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schoenmakers, Eric F" sort="Schoenmakers, Eric F" uniqKey="Schoenmakers E" first="Eric F." last="Schoenmakers">Eric F. Schoenmakers</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Kessel, Ad Geurts" sort="Van Kessel, Ad Geurts" uniqKey="Van Kessel A" first="Ad Geurts" last="Van Kessel">Ad Geurts Van Kessel</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Nouhuys, C Erik" sort="Van Nouhuys, C Erik" uniqKey="Van Nouhuys C" first="C. Erik" last="Van Nouhuys">C. Erik Van Nouhuys</name>
<affiliation wicri:level="1"><nlm:aff id="Aff5">Canisius-Wilhelmina Ziekenhuis, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Canisius-Wilhelmina Ziekenhuis, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cremers, Frans P M" sort="Cremers, Frans P M" uniqKey="Cremers F" first="Frans P. M." last="Cremers">Frans P. M. Cremers</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20563892</idno>
<idno type="pmc">2921488</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921488</idno>
<idno type="RBID">PMC:2921488</idno>
<idno type="doi">10.1007/s00439-010-0848-x</idno>
<date when="2010">2010</date>
<idno type="wicri:Area/Pmc/Corpus">000D41</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000D41</idno>
<idno type="wicri:Area/Pmc/Curation">000D40</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000D40</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>CDK19</italic>
is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation</title>
<author><name sortKey="Mukhopadhyay, Arijit" sort="Mukhopadhyay, Arijit" uniqKey="Mukhopadhyay A" first="Arijit" last="Mukhopadhyay">Arijit Mukhopadhyay</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, 110007 India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kramer, Jamie M" sort="Kramer, Jamie M" uniqKey="Kramer J" first="Jamie M." last="Kramer">Jamie M. Kramer</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Merkx, Gerard" sort="Merkx, Gerard" uniqKey="Merkx G" first="Gerard" last="Merkx">Gerard Merkx</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Smeets, Dominique F" sort="Smeets, Dominique F" uniqKey="Smeets D" first="Dominique F." last="Smeets">Dominique F. Smeets</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Oortveld, Merel A W" sort="Oortveld, Merel A W" uniqKey="Oortveld M" first="Merel A. W." last="Oortveld">Merel A. W. Oortveld</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Blokland, Ellen A W" sort="Blokland, Ellen A W" uniqKey="Blokland E" first="Ellen A. W." last="Blokland">Ellen A. W. Blokland</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Agrawal, Jyoti" sort="Agrawal, Jyoti" uniqKey="Agrawal J" first="Jyoti" last="Agrawal">Jyoti Agrawal</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, 110007 India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Huys, Erik" sort="Huys, Erik" uniqKey="Huys E" first="Erik" last="Huys">Erik Huys</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schoenmakers, Eric F" sort="Schoenmakers, Eric F" uniqKey="Schoenmakers E" first="Eric F." last="Schoenmakers">Eric F. Schoenmakers</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Kessel, Ad Geurts" sort="Van Kessel, Ad Geurts" uniqKey="Van Kessel A" first="Ad Geurts" last="Van Kessel">Ad Geurts Van Kessel</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Nouhuys, C Erik" sort="Van Nouhuys, C Erik" uniqKey="Van Nouhuys C" first="C. Erik" last="Van Nouhuys">C. Erik Van Nouhuys</name>
<affiliation wicri:level="1"><nlm:aff id="Aff5">Canisius-Wilhelmina Ziekenhuis, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Canisius-Wilhelmina Ziekenhuis, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cremers, Frans P M" sort="Cremers, Frans P M" uniqKey="Cremers F" first="Frans P. M." last="Cremers">Frans P. M. Cremers</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Human Genetics</title>
<idno type="ISSN">0340-6717</idno>
<idno type="eISSN">1432-1203</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21. Fluorescence in situ hybridization analysis narrowed down the region around the breakpoints, and the breakpoint at 6q21 was found to disrupt the <italic>CDK19</italic>
gene. <italic>CDK19</italic>
was found to be expressed in a diverse range of tissues including fetal eye and fetal brain. Quantitative PCR of the <italic>CDK19</italic>
transcript from Epstein–Barr virus-transformed lymphoblastoid cell lines of the patient revealed ~50% reduction in the transcript (<italic>p</italic>
= 0.02), suggesting haploinsufficiency of the gene. cdk8, the closest orthologue of human <italic>CDK19</italic>
in <italic>Drosophila</italic>
has been shown to play a major role in eye development. Conditional knock-down of <italic>Drosophila</italic>
cdk8 in multiple dendrite (md) neurons resulted in 35% reduced dendritic branching and altered morphology of the dendritic arbour, which appeared to be due in part to a loss of small higher order branches. In addition, Cdk8 mutant md neurons showed diminished dendritic fields revealing an important role of the CDK19 orthologue in the developing nervous system of <italic>Drosophila</italic>
. This is the first time the <italic>CDK19</italic>
gene, a component of the mediator co-activator complex, has been linked to a human disease.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Badano, Jl" uniqKey="Badano J">JL Badano</name>
</author>
<author><name sortKey="Mitsuma, N" uniqKey="Mitsuma N">N Mitsuma</name>
</author>
<author><name sortKey="Beales, Pl" uniqKey="Beales P">PL Beales</name>
</author>
<author><name sortKey="Katsanis, N" uniqKey="Katsanis N">N Katsanis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Berger, J" uniqKey="Berger J">J Berger</name>
</author>
<author><name sortKey="Senti, Ka" uniqKey="Senti K">KA Senti</name>
</author>
<author><name sortKey="Senti, G" uniqKey="Senti G">G Senti</name>
</author>
<author><name sortKey="Newsome, Tp" uniqKey="Newsome T">TP Newsome</name>
</author>
<author><name sortKey="Asling, B" uniqKey="Asling B">B Asling</name>
</author>
<author><name sortKey="Dickson, Bj" uniqKey="Dickson B">BJ Dickson</name>
</author>
<author><name sortKey="Suzuki, T" uniqKey="Suzuki T">T Suzuki</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Brand, Ah" uniqKey="Brand A">AH Brand</name>
</author>
<author><name sortKey="Perrimon, N" uniqKey="Perrimon N">N Perrimon</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Brouwer, Ap" uniqKey="Brouwer A">AP Brouwer</name>
</author>
<author><name sortKey="Bokhoven, H" uniqKey="Bokhoven H">H Bokhoven</name>
</author>
<author><name sortKey="Kremer, H" uniqKey="Kremer H">H Kremer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bruijn, Dr" uniqKey="Bruijn D">DR Bruijn</name>
</author>
<author><name sortKey="Kater Baats, E" uniqKey="Kater Baats E">E Kater-Baats</name>
</author>
<author><name sortKey="Eleveld, M" uniqKey="Eleveld M">M Eleveld</name>
</author>
<author><name sortKey="Merkx, G" uniqKey="Merkx G">G Merkx</name>
</author>
<author><name sortKey="Kessel, Ag" uniqKey="Kessel A">AG Kessel</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ding, N" uniqKey="Ding N">N Ding</name>
</author>
<author><name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author><name sortKey="Esteve, Po" uniqKey="Esteve P">PO Esteve</name>
</author>
<author><name sortKey="Chin, Hg" uniqKey="Chin H">HG Chin</name>
</author>
<author><name sortKey="Kim, S" uniqKey="Kim S">S Kim</name>
</author>
<author><name sortKey="Xu, X" uniqKey="Xu X">X Xu</name>
</author>
<author><name sortKey="Joseph, Sm" uniqKey="Joseph S">SM Joseph</name>
</author>
<author><name sortKey="Friez, Mj" uniqKey="Friez M">MJ Friez</name>
</author>
<author><name sortKey="Schwartz, Ce" uniqKey="Schwartz C">CE Schwartz</name>
</author>
<author><name sortKey="Pradhan, S" uniqKey="Pradhan S">S Pradhan</name>
</author>
<author><name sortKey="Boyer, Tg" uniqKey="Boyer T">TG Boyer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Elmlund, H" uniqKey="Elmlund H">H Elmlund</name>
</author>
<author><name sortKey="Baraznenok, V" uniqKey="Baraznenok V">V Baraznenok</name>
</author>
<author><name sortKey="Lindahl, M" uniqKey="Lindahl M">M Lindahl</name>
</author>
<author><name sortKey="Samuelsen, Co" uniqKey="Samuelsen C">CO Samuelsen</name>
</author>
<author><name sortKey="Koeck, Pj" uniqKey="Koeck P">PJ Koeck</name>
</author>
<author><name sortKey="Holmberg, S" uniqKey="Holmberg S">S Holmberg</name>
</author>
<author><name sortKey="Hebert, H" uniqKey="Hebert H">H Hebert</name>
</author>
<author><name sortKey="Gustafsson, Cm" uniqKey="Gustafsson C">CM Gustafsson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gartner, S" uniqKey="Gartner S">S Gartner</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gherman, A" uniqKey="Gherman A">A Gherman</name>
</author>
<author><name sortKey="Davis, Ee" uniqKey="Davis E">EE Davis</name>
</author>
<author><name sortKey="Katsanis, N" uniqKey="Katsanis N">N Katsanis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Grueber, Wb" uniqKey="Grueber W">WB Grueber</name>
</author>
<author><name sortKey="Jan, Ly" uniqKey="Jan L">LY Jan</name>
</author>
<author><name sortKey="Jan, Yn" uniqKey="Jan Y">YN Jan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Grueber, Wb" uniqKey="Grueber W">WB Grueber</name>
</author>
<author><name sortKey="Jan, Ly" uniqKey="Jan L">LY Jan</name>
</author>
<author><name sortKey="Jan, Yn" uniqKey="Jan Y">YN Jan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Huopaniemi, L" uniqKey="Huopaniemi L">L Huopaniemi</name>
</author>
<author><name sortKey="Tyynismaa, H" uniqKey="Tyynismaa H">H Tyynismaa</name>
</author>
<author><name sortKey="Rantala, A" uniqKey="Rantala A">A Rantala</name>
</author>
<author><name sortKey="Rosenberg, T" uniqKey="Rosenberg T">T Rosenberg</name>
</author>
<author><name sortKey="Alitalo, T" uniqKey="Alitalo T">T Alitalo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Iwase, S" uniqKey="Iwase S">S Iwase</name>
</author>
<author><name sortKey="Lan, F" uniqKey="Lan F">F Lan</name>
</author>
<author><name sortKey="Bayliss, P" uniqKey="Bayliss P">P Bayliss</name>
</author>
<author><name sortKey="La Torre Ubieta, L" uniqKey="La Torre Ubieta L">L la Torre-Ubieta</name>
</author>
<author><name sortKey="Huarte, M" uniqKey="Huarte M">M Huarte</name>
</author>
<author><name sortKey="Qi, Hh" uniqKey="Qi H">HH Qi</name>
</author>
<author><name sortKey="Whetstine, Jr" uniqKey="Whetstine J">JR Whetstine</name>
</author>
<author><name sortKey="Bonni, A" uniqKey="Bonni A">A Bonni</name>
</author>
<author><name sortKey="Roberts, Tm" uniqKey="Roberts T">TM Roberts</name>
</author>
<author><name sortKey="Shi, Y" uniqKey="Shi Y">Y Shi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Jarmas, Al" uniqKey="Jarmas A">AL Jarmas</name>
</author>
<author><name sortKey="Weaver, Dd" uniqKey="Weaver D">DD Weaver</name>
</author>
<author><name sortKey="Ellis, Fd" uniqKey="Ellis F">FD Ellis</name>
</author>
<author><name sortKey="Davis, A" uniqKey="Davis A">A Davis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Jensen, Lr" uniqKey="Jensen L">LR Jensen</name>
</author>
<author><name sortKey="Amende, M" uniqKey="Amende M">M Amende</name>
</author>
<author><name sortKey="Gurok, U" uniqKey="Gurok U">U Gurok</name>
</author>
<author><name sortKey="Moser, B" uniqKey="Moser B">B Moser</name>
</author>
<author><name sortKey="Gimmel, V" uniqKey="Gimmel V">V Gimmel</name>
</author>
<author><name sortKey="Tzschach, A" uniqKey="Tzschach A">A Tzschach</name>
</author>
<author><name sortKey="Janecke, Ar" uniqKey="Janecke A">AR Janecke</name>
</author>
<author><name sortKey="Tariverdian, G" uniqKey="Tariverdian G">G Tariverdian</name>
</author>
<author><name sortKey="Chelly, J" uniqKey="Chelly J">J Chelly</name>
</author>
<author><name sortKey="Fryns, Jp" uniqKey="Fryns J">JP Fryns</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaufmann, We" uniqKey="Kaufmann W">WE Kaufmann</name>
</author>
<author><name sortKey="Moser, Hw" uniqKey="Moser H">HW Moser</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kleefstra, T" uniqKey="Kleefstra T">T Kleefstra</name>
</author>
<author><name sortKey="Brunner, Hg" uniqKey="Brunner H">HG Brunner</name>
</author>
<author><name sortKey="Amiel, J" uniqKey="Amiel J">J Amiel</name>
</author>
<author><name sortKey="Oudakker, Ar" uniqKey="Oudakker A">AR Oudakker</name>
</author>
<author><name sortKey="Nillesen, Wm" uniqKey="Nillesen W">WM Nillesen</name>
</author>
<author><name sortKey="Magee, A" uniqKey="Magee A">A Magee</name>
</author>
<author><name sortKey="Genevieve, D" uniqKey="Genevieve D">D Geneviève</name>
</author>
<author><name sortKey="Cormier Daire, V" uniqKey="Cormier Daire V">V Cormier-Daire</name>
</author>
<author><name sortKey="Esch, H" uniqKey="Esch H">H Esch</name>
</author>
<author><name sortKey="Fryns, Jp" uniqKey="Fryns J">JP Fryns</name>
</author>
<author><name sortKey="Hamel, Bc" uniqKey="Hamel B">BC Hamel</name>
</author>
<author><name sortKey="Sistermans, Ea" uniqKey="Sistermans E">EA Sistermans</name>
</author>
<author><name sortKey="Vries, Bb" uniqKey="Vries B">BB Vries</name>
</author>
<author><name sortKey="Bokhoven, H" uniqKey="Bokhoven H">H Bokhoven</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Knuesel, Mt" uniqKey="Knuesel M">MT Knuesel</name>
</author>
<author><name sortKey="Meyer, Kd" uniqKey="Meyer K">KD Meyer</name>
</author>
<author><name sortKey="Bernecky, C" uniqKey="Bernecky C">C Bernecky</name>
</author>
<author><name sortKey="Taatjes, Dj" uniqKey="Taatjes D">DJ Taatjes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Knuesel, Mt" uniqKey="Knuesel M">MT Knuesel</name>
</author>
<author><name sortKey="Meyer, Kd" uniqKey="Meyer K">KD Meyer</name>
</author>
<author><name sortKey="Donner, Aj" uniqKey="Donner A">AJ Donner</name>
</author>
<author><name sortKey="Espinosa, Jm" uniqKey="Espinosa J">JM Espinosa</name>
</author>
<author><name sortKey="Taatjes, Dj" uniqKey="Taatjes D">DJ Taatjes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kulaga, Hm" uniqKey="Kulaga H">HM Kulaga</name>
</author>
<author><name sortKey="Leitch, Cc" uniqKey="Leitch C">CC Leitch</name>
</author>
<author><name sortKey="Eichers, Er" uniqKey="Eichers E">ER Eichers</name>
</author>
<author><name sortKey="Badano, Jl" uniqKey="Badano J">JL Badano</name>
</author>
<author><name sortKey="Lesemann, A" uniqKey="Lesemann A">A Lesemann</name>
</author>
<author><name sortKey="Hoskins, Be" uniqKey="Hoskins B">BE Hoskins</name>
</author>
<author><name sortKey="Lupski, Jr" uniqKey="Lupski J">JR Lupski</name>
</author>
<author><name sortKey="Beales, Pl" uniqKey="Beales P">PL Beales</name>
</author>
<author><name sortKey="Reed, Rr" uniqKey="Reed R">RR Reed</name>
</author>
<author><name sortKey="Katsanis, N" uniqKey="Katsanis N">N Katsanis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Leclerc, V" uniqKey="Leclerc V">V Leclerc</name>
</author>
<author><name sortKey="Tassan, Jp" uniqKey="Tassan J">JP Tassan</name>
</author>
<author><name sortKey="O Arrell, Ph" uniqKey="O Arrell P">PH O’Farrell</name>
</author>
<author><name sortKey="Nigg, Ea" uniqKey="Nigg E">EA Nigg</name>
</author>
<author><name sortKey="Leopold, P" uniqKey="Leopold P">P Leopold</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lee, A" uniqKey="Lee A">A Lee</name>
</author>
<author><name sortKey="Li, W" uniqKey="Li W">W Li</name>
</author>
<author><name sortKey="Xu, K" uniqKey="Xu K">K Xu</name>
</author>
<author><name sortKey="Bogert, Ba" uniqKey="Bogert B">BA Bogert</name>
</author>
<author><name sortKey="Su, K" uniqKey="Su K">K Su</name>
</author>
<author><name sortKey="Gao, Fb" uniqKey="Gao F">FB Gao</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Livak, Kj" uniqKey="Livak K">KJ Livak</name>
</author>
<author><name sortKey="Schmittgen, Td" uniqKey="Schmittgen T">TD Schmittgen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Loncle, N" uniqKey="Loncle N">N Loncle</name>
</author>
<author><name sortKey="Boube, M" uniqKey="Boube M">M Boube</name>
</author>
<author><name sortKey="Joulia, L" uniqKey="Joulia L">L Joulia</name>
</author>
<author><name sortKey="Boschiero, C" uniqKey="Boschiero C">C Boschiero</name>
</author>
<author><name sortKey="Werner, M" uniqKey="Werner M">M Werner</name>
</author>
<author><name sortKey="Cribbs, Dl" uniqKey="Cribbs D">DL Cribbs</name>
</author>
<author><name sortKey="Bourbon, Hm" uniqKey="Bourbon H">HM Bourbon</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lu, Y" uniqKey="Lu Y">Y Lu</name>
</author>
<author><name sortKey="Wang, F" uniqKey="Wang F">F Wang</name>
</author>
<author><name sortKey="Li, Y" uniqKey="Li Y">Y Li</name>
</author>
<author><name sortKey="Ferris, J" uniqKey="Ferris J">J Ferris</name>
</author>
<author><name sortKey="Lee, Ja" uniqKey="Lee J">JA Lee</name>
</author>
<author><name sortKey="Gao, Fb" uniqKey="Gao F">FB Gao</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Masuda, Y" uniqKey="Masuda Y">Y Masuda</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nguyen, Tn" uniqKey="Nguyen T">TN Nguyen</name>
</author>
<author><name sortKey="Der Kaloustian, Vm" uniqKey="Der Kaloustian V">VM Der Kaloustian</name>
</author>
<author><name sortKey="Barsoum Homsy, M" uniqKey="Barsoum Homsy M">M Barsoum-Homsy</name>
</author>
<author><name sortKey="Dembinska, O" uniqKey="Dembinska O">O Dembinska</name>
</author>
<author><name sortKey="Koenekoop, Rk" uniqKey="Koenekoop R">RK Koenekoop</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nishimura, M" uniqKey="Nishimura M">M Nishimura</name>
</author>
<author><name sortKey="Yamana, T" uniqKey="Yamana T">T Yamana</name>
</author>
<author><name sortKey="Sugino, M" uniqKey="Sugino M">M Sugino</name>
</author>
<author><name sortKey="Kohno, T" uniqKey="Kohno T">T Kohno</name>
</author>
<author><name sortKey="Yamana, Y" uniqKey="Yamana Y">Y Yamana</name>
</author>
<author><name sortKey="Minei, M" uniqKey="Minei M">M Minei</name>
</author>
<author><name sortKey="Sanui, H" uniqKey="Sanui H">H Sanui</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pfaffl, Mw" uniqKey="Pfaffl M">MW Pfaffl</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pfluger, E" uniqKey="Pfluger E">E Pfluger</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Risheg, H" uniqKey="Risheg H">H Risheg</name>
</author>
<author><name sortKey="Graham, Jm" uniqKey="Graham J">JM Graham</name>
</author>
<author><name sortKey="Clark, Rd" uniqKey="Clark R">RD Clark</name>
</author>
<author><name sortKey="Rogers, Rc" uniqKey="Rogers R">RC Rogers</name>
</author>
<author><name sortKey="Opitz, Jm" uniqKey="Opitz J">JM Opitz</name>
</author>
<author><name sortKey="Moeschler, Jb" uniqKey="Moeschler J">JB Moeschler</name>
</author>
<author><name sortKey="Peiffer, Ap" uniqKey="Peiffer A">AP Peiffer</name>
</author>
<author><name sortKey="May, M" uniqKey="May M">M May</name>
</author>
<author><name sortKey="Joseph, Sm" uniqKey="Joseph S">SM Joseph</name>
</author>
<author><name sortKey="Jones, Jr" uniqKey="Jones J">JR Jones</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Saitou, N" uniqKey="Saitou N">N Saitou</name>
</author>
<author><name sortKey="Nei, M" uniqKey="Nei M">M Nei</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tachibana, M" uniqKey="Tachibana M">M Tachibana</name>
</author>
<author><name sortKey="Ueda, J" uniqKey="Ueda J">J Ueda</name>
</author>
<author><name sortKey="Fukuda, M" uniqKey="Fukuda M">M Fukuda</name>
</author>
<author><name sortKey="Takeda, N" uniqKey="Takeda N">N Takeda</name>
</author>
<author><name sortKey="Ohta, T" uniqKey="Ohta T">T Ohta</name>
</author>
<author><name sortKey="Iwanari, H" uniqKey="Iwanari H">H Iwanari</name>
</author>
<author><name sortKey="Sakihama, T" uniqKey="Sakihama T">T Sakihama</name>
</author>
<author><name sortKey="Kodama, T" uniqKey="Kodama T">T Kodama</name>
</author>
<author><name sortKey="Hamakubo, T" uniqKey="Hamakubo T">T Hamakubo</name>
</author>
<author><name sortKey="Shinkai, Y" uniqKey="Shinkai Y">Y Shinkai</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tahiliani, M" uniqKey="Tahiliani M">M Tahiliani</name>
</author>
<author><name sortKey="Mei, P" uniqKey="Mei P">P Mei</name>
</author>
<author><name sortKey="Fang, R" uniqKey="Fang R">R Fang</name>
</author>
<author><name sortKey="Leonor, T" uniqKey="Leonor T">T Leonor</name>
</author>
<author><name sortKey="Rutenberg, M" uniqKey="Rutenberg M">M Rutenberg</name>
</author>
<author><name sortKey="Shimizu, F" uniqKey="Shimizu F">F Shimizu</name>
</author>
<author><name sortKey="Li, J" uniqKey="Li J">J Li</name>
</author>
<author><name sortKey="Rao, A" uniqKey="Rao A">A Rao</name>
</author>
<author><name sortKey="Shi, Y" uniqKey="Shi Y">Y Shi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tao, J" uniqKey="Tao J">J Tao</name>
</author>
<author><name sortKey="Esch, H" uniqKey="Esch H">H Esch</name>
</author>
<author><name sortKey="Hagedorn Greiwe, M" uniqKey="Hagedorn Greiwe M">M Hagedorn-Greiwe</name>
</author>
<author><name sortKey="Hoffmann, K" uniqKey="Hoffmann K">K Hoffmann</name>
</author>
<author><name sortKey="Moser, B" uniqKey="Moser B">B Moser</name>
</author>
<author><name sortKey="Raynaud, M" uniqKey="Raynaud M">M Raynaud</name>
</author>
<author><name sortKey="Sperner, J" uniqKey="Sperner J">J Sperner</name>
</author>
<author><name sortKey="Fryns, Jp" uniqKey="Fryns J">JP Fryns</name>
</author>
<author><name sortKey="Schwinger, E" uniqKey="Schwinger E">E Schwinger</name>
</author>
<author><name sortKey="Gecz, J" uniqKey="Gecz J">J Gecz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nouhuys, Ce" uniqKey="Nouhuys C">CE Nouhuys</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nouhuys, Ce" uniqKey="Nouhuys C">CE Nouhuys</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nouhuys, Ce" uniqKey="Nouhuys C">CE Nouhuys</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Wall, Fe" uniqKey="Wall F">FE Wall</name>
</author>
<author><name sortKey="Henkel, Rd" uniqKey="Henkel R">RD Henkel</name>
</author>
<author><name sortKey="Stern, Mp" uniqKey="Stern M">MP Stern</name>
</author>
<author><name sortKey="Jenson, Hb" uniqKey="Jenson H">HB Jenson</name>
</author>
<author><name sortKey="Moyer, Mp" uniqKey="Moyer M">MP Moyer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Weaving, Ls" uniqKey="Weaving L">LS Weaving</name>
</author>
<author><name sortKey="Ellaway, Cj" uniqKey="Ellaway C">CJ Ellaway</name>
</author>
<author><name sortKey="Gecz, J" uniqKey="Gecz J">J Gecz</name>
</author>
<author><name sortKey="Christodoulou, J" uniqKey="Christodoulou J">J Christodoulou</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Genet</journal-id>
<journal-title-group><journal-title>Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0340-6717</issn>
<issn pub-type="epub">1432-1203</issn>
<publisher><publisher-name>Springer-Verlag</publisher-name>
<publisher-loc>Berlin/Heidelberg</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">20563892</article-id>
<article-id pub-id-type="pmc">2921488</article-id>
<article-id pub-id-type="publisher-id">848</article-id>
<article-id pub-id-type="doi">10.1007/s00439-010-0848-x</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Original Investigation</subject>
</subj-group>
</article-categories>
<title-group><article-title><italic>CDK19</italic>
is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Mukhopadhyay</surname>
<given-names>Arijit</given-names>
</name>
<address><phone>+91-11-27666156</phone>
<fax>+91-11-27667471</fax>
<email>arijit@igib.res.in</email>
<email>arijit@igib.in</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kramer</surname>
<given-names>Jamie M.</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Merkx</surname>
<given-names>Gerard</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lugtenberg</surname>
<given-names>Dorien</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Smeets</surname>
<given-names>Dominique F.</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Oortveld</surname>
<given-names>Merel A. W.</given-names>
</name>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Blokland</surname>
<given-names>Ellen A. W.</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Agrawal</surname>
<given-names>Jyoti</given-names>
</name>
<xref ref-type="aff" rid="Aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schenck</surname>
<given-names>Annette</given-names>
</name>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Bokhoven</surname>
<given-names>Hans</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Huys</surname>
<given-names>Erik</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schoenmakers</surname>
<given-names>Eric F.</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Kessel</surname>
<given-names>Ad Geurts</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Nouhuys</surname>
<given-names>C. Erik</given-names>
</name>
<xref ref-type="aff" rid="Aff5">5</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><name><surname>Cremers</surname>
<given-names>Frans P. M.</given-names>
</name>
<address><phone>+31-24-3614017</phone>
<fax>+31-24-3668752</fax>
<email>f.cremers@antrg.umcn.nl</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff3">3</xref>
</contrib>
<aff id="Aff1"><label>1</label>
Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands</aff>
<aff id="Aff2"><label>2</label>
Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, 110007 India</aff>
<aff id="Aff3"><label>3</label>
Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands</aff>
<aff id="Aff4"><label>4</label>
Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands</aff>
<aff id="Aff5"><label>5</label>
Canisius-Wilhelmina Ziekenhuis, Nijmegen, The Netherlands</aff>
</contrib-group>
<pub-date pub-type="epub"><day>22</day>
<month>6</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>22</day>
<month>6</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="ppub"><month>9</month>
<year>2010</year>
</pub-date>
<volume>128</volume>
<issue>3</issue>
<fpage>281</fpage>
<lpage>291</lpage>
<history><date date-type="received"><day>6</day>
<month>4</month>
<year>2010</year>
</date>
<date date-type="accepted"><day>3</day>
<month>6</month>
<year>2010</year>
</date>
</history>
<permissions><copyright-statement>© The Author(s) 2010</copyright-statement>
</permissions>
<abstract><p>Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21. Fluorescence in situ hybridization analysis narrowed down the region around the breakpoints, and the breakpoint at 6q21 was found to disrupt the <italic>CDK19</italic>
gene. <italic>CDK19</italic>
was found to be expressed in a diverse range of tissues including fetal eye and fetal brain. Quantitative PCR of the <italic>CDK19</italic>
transcript from Epstein–Barr virus-transformed lymphoblastoid cell lines of the patient revealed ~50% reduction in the transcript (<italic>p</italic>
= 0.02), suggesting haploinsufficiency of the gene. cdk8, the closest orthologue of human <italic>CDK19</italic>
in <italic>Drosophila</italic>
has been shown to play a major role in eye development. Conditional knock-down of <italic>Drosophila</italic>
cdk8 in multiple dendrite (md) neurons resulted in 35% reduced dendritic branching and altered morphology of the dendritic arbour, which appeared to be due in part to a loss of small higher order branches. In addition, Cdk8 mutant md neurons showed diminished dendritic fields revealing an important role of the CDK19 orthologue in the developing nervous system of <italic>Drosophila</italic>
. This is the first time the <italic>CDK19</italic>
gene, a component of the mediator co-activator complex, has been linked to a human disease.</p>
</abstract>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© Springer-Verlag 2010</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D40 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd -nk 000D40 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Curation |type= RBID |clé= PMC:2921488 |texte= CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Curation/RBID.i -Sk "pubmed:20563892" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |