LymphedemaV1, Pmc, Corpus, bibRecord, 003496

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Identifieur interne : 003496 ( Pmc/Corpus ); précédent : 003495; suivant : 003497

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Auteurs : Ghayda M. Mirzaa ; Laura Enyedi ; Gretchen Parsons ; Sarah Collins ; Livija Medne ; Carissa Adams ; Thomas Ward ; Bradley Davitt ; Alma Bicknese ; Elaine Zackai ; Helga Toriello ; William B. Dobyns ; Susan Christian

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2014.

RBID : PMC:4205200

Abstract

The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema, are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report therefore further expands the clinical and molecular spectrum of KIF11-associated microcephaly.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205200

DOI: 10.1002/ajmg.a.36707
PubMed: 25115524
PubMed Central: 4205200

Links to Exploration step

PMC:4205200

Le document en format XML

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 heterozygous <italic>KIF11</italic>
 mutations: five novel mutations and review of the literature</title>
<author><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name>
<affiliation><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Enyedi, Laura" sort="Enyedi, Laura" uniqKey="Enyedi L" first="Laura" last="Enyedi">Laura Enyedi</name>
<affiliation><nlm:aff id="A2">Departments of Ophthalmology and Pediatrics, Duke University, Durham, NC</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Parsons, Gretchen" sort="Parsons, Gretchen" uniqKey="Parsons G" first="Gretchen" last="Parsons">Gretchen Parsons</name>
<affiliation><nlm:aff id="A3">Clinical Genetics, Spectrum Health Medical Genetics, Grand Rapids, MI</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name>
<affiliation><nlm:aff id="A5">Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Adams, Carissa" sort="Adams, Carissa" uniqKey="Adams C" first="Carissa" last="Adams">Carissa Adams</name>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
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<author><name sortKey="Ward, Thomas" sort="Ward, Thomas" uniqKey="Ward T" first="Thomas" last="Ward">Thomas Ward</name>
<affiliation><nlm:aff id="A6">Urban Lab, Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA</nlm:aff>
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<author><name sortKey="Davitt, Bradley" sort="Davitt, Bradley" uniqKey="Davitt B" first="Bradley" last="Davitt">Bradley Davitt</name>
<affiliation><nlm:aff id="A7">Departments of Ophthalmology and Pediatrics, Cardinal Glennon Children's Medical Center, Saint Louis University School of Medicine, St. Louis, MO</nlm:aff>
</affiliation>
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<author><name sortKey="Bicknese, Alma" sort="Bicknese, Alma" uniqKey="Bicknese A" first="Alma" last="Bicknese">Alma Bicknese</name>
<affiliation><nlm:aff id="A8">Division of Pediatric Neurology, Department of Pediatrics, University of Illinois at Chicago, Chicago, IL</nlm:aff>
</affiliation>
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<author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name>
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</affiliation>
</author>
<author><name sortKey="Toriello, Helga" sort="Toriello, Helga" uniqKey="Toriello H" first="Helga" last="Toriello">Helga Toriello</name>
<affiliation><nlm:aff id="A3">Clinical Genetics, Spectrum Health Medical Genetics, Grand Rapids, MI</nlm:aff>
</affiliation>
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<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
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</affiliation>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
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<author><name sortKey="Christian, Susan" sort="Christian, Susan" uniqKey="Christian S" first="Susan" last="Christian">Susan Christian</name>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Congenital microcephaly and chorioretinopathy due to <italic>de novo</italic>
 heterozygous <italic>KIF11</italic>
 mutations: five novel mutations and review of the literature</title>
<author><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name>
<affiliation><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Enyedi, Laura" sort="Enyedi, Laura" uniqKey="Enyedi L" first="Laura" last="Enyedi">Laura Enyedi</name>
<affiliation><nlm:aff id="A2">Departments of Ophthalmology and Pediatrics, Duke University, Durham, NC</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Parsons, Gretchen" sort="Parsons, Gretchen" uniqKey="Parsons G" first="Gretchen" last="Parsons">Gretchen Parsons</name>
<affiliation><nlm:aff id="A3">Clinical Genetics, Spectrum Health Medical Genetics, Grand Rapids, MI</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name>
<affiliation><nlm:aff id="A5">Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Adams, Carissa" sort="Adams, Carissa" uniqKey="Adams C" first="Carissa" last="Adams">Carissa Adams</name>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ward, Thomas" sort="Ward, Thomas" uniqKey="Ward T" first="Thomas" last="Ward">Thomas Ward</name>
<affiliation><nlm:aff id="A6">Urban Lab, Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Davitt, Bradley" sort="Davitt, Bradley" uniqKey="Davitt B" first="Bradley" last="Davitt">Bradley Davitt</name>
<affiliation><nlm:aff id="A7">Departments of Ophthalmology and Pediatrics, Cardinal Glennon Children's Medical Center, Saint Louis University School of Medicine, St. Louis, MO</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bicknese, Alma" sort="Bicknese, Alma" uniqKey="Bicknese A" first="Alma" last="Bicknese">Alma Bicknese</name>
<affiliation><nlm:aff id="A8">Division of Pediatric Neurology, Department of Pediatrics, University of Illinois at Chicago, Chicago, IL</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name>
<affiliation><nlm:aff id="A9">Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Toriello, Helga" sort="Toriello, Helga" uniqKey="Toriello H" first="Helga" last="Toriello">Helga Toriello</name>
<affiliation><nlm:aff id="A3">Clinical Genetics, Spectrum Health Medical Genetics, Grand Rapids, MI</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<affiliation><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Christian, Susan" sort="Christian, Susan" uniqKey="Christian S" first="Susan" last="Christian">Susan Christian</name>
<affiliation><nlm:aff id="A4">Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of medical genetics. Part A</title>
<idno type="ISSN">1552-4825</idno>
<idno type="eISSN">1552-4833</idno>
<imprint><date when="2014">2014</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="P1">The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema, are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in <italic>KIF11</italic>
, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on <italic>de novo</italic>
 novel mutations of <italic>KIF11</italic>
 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report therefore further expands the clinical and molecular spectrum of <italic>KIF11</italic>
-associated microcephaly.</p>
</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>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id>
<journal-id journal-id-type="pubmed-jr-id">32200</journal-id>
<journal-id journal-id-type="nlm-ta">Am J Med Genet A</journal-id>
<journal-id journal-id-type="iso-abbrev">Am. J. Med. Genet. A</journal-id>
<journal-title-group><journal-title>American journal of medical genetics. Part A</journal-title>
</journal-title-group>
<issn pub-type="ppub">1552-4825</issn>
<issn pub-type="epub">1552-4833</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">25115524</article-id>
<article-id pub-id-type="pmc">4205200</article-id>
<article-id pub-id-type="doi">10.1002/ajmg.a.36707</article-id>
<article-id pub-id-type="manuscript">NIHMS611520</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Congenital microcephaly and chorioretinopathy due to <italic>de novo</italic>
 heterozygous <italic>KIF11</italic>
 mutations: five novel mutations and review of the literature</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Mirzaa</surname>
<given-names>Ghayda M.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Enyedi</surname>
<given-names>Laura</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Parsons</surname>
<given-names>Gretchen</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Collins</surname>
<given-names>Sarah</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Medne</surname>
<given-names>Livija</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Adams</surname>
<given-names>Carissa</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ward</surname>
<given-names>Thomas</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Davitt</surname>
<given-names>Bradley</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bicknese</surname>
<given-names>Alma</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zackai</surname>
<given-names>Elaine</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Toriello</surname>
<given-names>Helga</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dobyns</surname>
<given-names>William B.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Christian</surname>
<given-names>Susan</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</aff>
<aff id="A2"><label>2</label>
Departments of Ophthalmology and Pediatrics, Duke University, Durham, NC</aff>
<aff id="A3"><label>3</label>
Clinical Genetics, Spectrum Health Medical Genetics, Grand Rapids, MI</aff>
<aff id="A4"><label>4</label>
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</aff>
<aff id="A5"><label>5</label>
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA</aff>
<aff id="A6"><label>6</label>
Urban Lab, Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA</aff>
<aff id="A7"><label>7</label>
Departments of Ophthalmology and Pediatrics, Cardinal Glennon Children's Medical Center, Saint Louis University School of Medicine, St. Louis, MO</aff>
<aff id="A8"><label>8</label>
Division of Pediatric Neurology, Department of Pediatrics, University of Illinois at Chicago, Chicago, IL</aff>
<aff id="A9"><label>9</label>
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA</aff>
<author-notes><corresp id="FN1">Corresponding author's contact information: Ghayda M. Mirzaa, M.D. Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA. <email>gmirzaa@uw.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>12</day>
<month>7</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>12</day>
<month>8</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="ppub"><month>11</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>11</month>
<year>2015</year>
</pub-date>
<volume>164</volume>
<issue>11</issue>
<fpage>2879</fpage>
<lpage>2886</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/ajmg.a.36707</pmc-comment>
      <abstract><p id="P1">The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema, are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in <italic>KIF11</italic>
, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on <italic>de novo</italic>
 novel mutations of <italic>KIF11</italic>
 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report therefore further expands the clinical and molecular spectrum of <italic>KIF11</italic>
-associated microcephaly.</p>
</abstract>
<kwd-group><kwd>Microcephaly</kwd>
<kwd>chorioretinopathy</kwd>
<kwd>lymphedema</kwd>
<kwd><italic>KIF11</italic>
</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

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Abstract

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