Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Identifieur interne : 001398 ( PubMed/Corpus ); précédent : 001397; suivant : 001399Congenital 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 ChristianSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2014.
English descriptors
- KwdEn :
- Adolescent, Brain (pathology), Child, Child, Preschool, Chromosome Mapping, DNA Mutational Analysis, Exons, Facies, Female, Heterozygote, Humans, Infant, Kinesin (genetics), Magnetic Resonance Imaging, Male, Microcephaly (diagnosis), Microcephaly (genetics), Mutation, Phenotype, Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Syndrome.
- MESH :
- chemical , genetics : Kinesin.
- diagnosis : Microcephaly, Retinal Dysplasia.
- genetics : Microcephaly, Retinal Dysplasia.
- pathology : Brain.
- Adolescent, Child, Child, Preschool, Chromosome Mapping, DNA Mutational Analysis, Exons, Facies, Female, Heterozygote, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation, Phenotype, Syndrome.
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.
DOI: 10.1002/ajmg.a.36707
PubMed: 25115524
Links to Exploration step
pubmed:25115524Le document en format XML
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Mirzaa</name><affiliation><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.</nlm:affiliation></affiliation></author><author><name sortKey="Enyedi, Laura" sort="Enyedi, Laura" uniqKey="Enyedi L" first="Laura" last="Enyedi">Laura Enyedi</name></author><author><name sortKey="Parsons, Gretchen" sort="Parsons, Gretchen" uniqKey="Parsons G" first="Gretchen" last="Parsons">Gretchen Parsons</name></author><author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name></author><author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name></author><author><name sortKey="Adams, Carissa" sort="Adams, Carissa" uniqKey="Adams C" first="Carissa" last="Adams">Carissa Adams</name></author><author><name sortKey="Ward, Thomas" sort="Ward, Thomas" uniqKey="Ward T" first="Thomas" last="Ward">Thomas Ward</name></author><author><name sortKey="Davitt, Bradley" sort="Davitt, Bradley" uniqKey="Davitt B" first="Bradley" last="Davitt">Bradley Davitt</name></author><author><name sortKey="Bicknese, Alma" sort="Bicknese, Alma" uniqKey="Bicknese A" first="Alma" last="Bicknese">Alma Bicknese</name></author><author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name></author><author><name sortKey="Toriello, Helga" sort="Toriello, Helga" uniqKey="Toriello H" first="Helga" last="Toriello">Helga Toriello</name></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. 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Mirzaa</name><affiliation><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.</nlm:affiliation></affiliation></author><author><name sortKey="Enyedi, Laura" sort="Enyedi, Laura" uniqKey="Enyedi L" first="Laura" last="Enyedi">Laura Enyedi</name></author><author><name sortKey="Parsons, Gretchen" sort="Parsons, Gretchen" uniqKey="Parsons G" first="Gretchen" last="Parsons">Gretchen Parsons</name></author><author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name></author><author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name></author><author><name sortKey="Adams, Carissa" sort="Adams, Carissa" uniqKey="Adams C" first="Carissa" last="Adams">Carissa Adams</name></author><author><name sortKey="Ward, Thomas" sort="Ward, Thomas" uniqKey="Ward T" first="Thomas" last="Ward">Thomas Ward</name></author><author><name sortKey="Davitt, Bradley" sort="Davitt, Bradley" uniqKey="Davitt B" first="Bradley" last="Davitt">Bradley Davitt</name></author><author><name sortKey="Bicknese, Alma" sort="Bicknese, Alma" uniqKey="Bicknese A" first="Alma" last="Bicknese">Alma Bicknese</name></author><author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name></author><author><name sortKey="Toriello, Helga" sort="Toriello, Helga" uniqKey="Toriello H" first="Helga" last="Toriello">Helga Toriello</name></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. Dobyns</name></author><author><name sortKey="Christian, Susan" sort="Christian, Susan" uniqKey="Christian S" first="Susan" last="Christian">Susan Christian</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Brain (pathology)</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Mapping</term><term>DNA Mutational Analysis</term><term>Exons</term><term>Facies</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Infant</term><term>Kinesin (genetics)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Microcephaly (diagnosis)</term><term>Microcephaly (genetics)</term><term>Mutation</term><term>Phenotype</term><term>Retinal Dysplasia (diagnosis)</term><term>Retinal Dysplasia (genetics)</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Mapping</term><term>DNA Mutational Analysis</term><term>Exons</term><term>Facies</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Infant</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25115524</PMID><DateCreated><Year>2014</Year><Month>10</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>16</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>164A</Volume><Issue>11</Issue><PubDate><Year>2014</Year><Month>Nov</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.</ArticleTitle><Pagination><MedlinePgn>2879-86</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.36707</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>© 2014 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mirzaa</LastName><ForeName>Ghayda M</ForeName><Initials>GM</Initials><AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Enyedi</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Parsons</LastName><ForeName>Gretchen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Sarah</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Medne</LastName><ForeName>Livija</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Adams</LastName><ForeName>Carissa</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Ward</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Davitt</LastName><ForeName>Bradley</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Bicknese</LastName><ForeName>Alma</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Zackai</LastName><ForeName>Elaine</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Toriello</LastName><ForeName>Helga</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Dobyns</LastName><ForeName>William B</ForeName><Initials>WB</Initials></Author><Author ValidYN="Y"><LastName>Christian</LastName><ForeName>Susan</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 NS058721</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS058721</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>08</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C470243">KIF11 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.4.4</RegistryNumber><NameOfSubstance UI="D016547">Kinesin</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1992 Aug 1;43(6):1030-1</RefSource><PMID Version="1">1415329</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 1995 Sep;48(3):131-3</RefSource><PMID Version="1">8556819</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Cell Biol. 2006 May;8(5):470-6</RefSource><PMID Version="1">16604065</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Trends Genet. 2009 Nov;25(11):501-10</RefSource><PMID Version="1">19850369</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 2010 Jul;43(1):7-16</RefSource><PMID Version="1">20682196</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>AJNR Am J Neuroradiol. 2011 Jun-Jul;32(6):1123-9</RefSource><PMID Version="1">21454410</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Orphanet J Rare Dis. 2011;6:39</RefSource><PMID Version="1">21668957</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2012;7(1):e28936</RefSource><PMID Version="1">22279524</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2012 Feb 10;90(2):356-62</RefSource><PMID Version="1">22284827</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J AAPOS. 2012 Jun;16(3):238-41</RefSource><PMID Version="1">22681940</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2012 Jul;158A(7):1686-9</RefSource><PMID Version="1">22653704</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Hum Genet. 2014 Jul;22(7):881-7</RefSource><PMID Version="1">24281367</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001921" MajorTopicYN="N">Brain</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019066" MajorTopicYN="N">Facies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="Y">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016547" MajorTopicYN="N">Kinesin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015792" MajorTopicYN="N">Retinal Dysplasia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS611520</OtherID><OtherID Source="NLM">PMC4205200</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">KIF11</Keyword><Keyword MajorTopicYN="N">chorioretinopathy</Keyword><Keyword MajorTopicYN="N">lymphedema</Keyword><Keyword MajorTopicYN="N">microcephaly</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>02</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>06</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>8</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>8</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>5</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25115524</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.36707</ArticleId><ArticleId 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