A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.
Identifieur interne : 002172 ( PubMed/Checkpoint ); précédent : 002171; suivant : 002173A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.
Auteurs : Filiz Hazan [Turquie] ; Pia Ostergaard ; Taylan Ozturk ; Esin Kantekin ; Fusun Atlihan ; Steve Jeffery ; Ferda OzkinaySource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2012.
Descripteurs français
- KwdFr :
- Codon non-sens, Consanguinité, Dysplasie rétinienne (diagnostic), Dysplasie rétinienne (génétique), Exons, Faciès, Humains, Hétérozygote, Kinésine (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Microcéphalie (diagnostic), Microcéphalie (génétique), Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Séquence nucléotidique, Turquie.
- MESH :
- diagnostic : Dysplasie rétinienne, Lymphoedème, Microcéphalie.
- génétique : Dysplasie rétinienne, Kinésine, Lymphoedème, Microcéphalie.
- Codon non-sens, Consanguinité, Exons, Faciès, Humains, Hétérozygote, Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Séquence nucléotidique, Turquie.
English descriptors
- KwdEn :
- Base Sequence, Codon, Nonsense, Consanguinity, Exons, Facies, Heterozygote, Humans, Infant, Infant, Newborn, Kinesin (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Male, Microcephaly (diagnosis), Microcephaly (genetics), Mutation, Phenotype, Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Turkey.
- MESH :
- chemical , genetics : Kinesin.
- chemical : Codon, Nonsense.
- diagnosis : Lymphedema, Microcephaly, Retinal Dysplasia.
- genetics : Lymphedema, Microcephaly, Retinal Dysplasia.
- Base Sequence, Consanguinity, Exons, Facies, Heterozygote, Humans, Infant, Infant, Newborn, Male, Mutation, Phenotype, Turkey.
Abstract
Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.
DOI: 10.1002/ajmg.a.35371
PubMed: 22653704
Affiliations:
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pubmed:22653704Le document en format XML
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Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">22653704</PMID><DateCreated><Year>2012</Year><Month>06</Month><Day>19</Day></DateCreated><DateCompleted><Year>2012</Year><Month>11</Month><Day>13</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>158A</Volume><Issue>7</Issue><PubDate><Year>2012</Year><Month>Jul</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.</ArticleTitle><Pagination><MedlinePgn>1686-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.35371</ELocationID><Abstract><AbstractText>Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.</AbstractText><CopyrightInformation>Copyright © 2012 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hazan</LastName><ForeName>Filiz</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey. filizhazan@hotmail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Ozturk</LastName><ForeName>Taylan</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Kantekin</LastName><ForeName>Esin</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Atlihan</LastName><ForeName>Fusun</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ozkinay</LastName><ForeName>Ferda</ForeName><Initials>F</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>BHF_PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>05</Month><Day>31</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="D018389">Codon, 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MajorTopicYN="N">Facies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016547" MajorTopicYN="N">Kinesin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008831" 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Jeffery</name><name sortKey="Kantekin, Esin" sort="Kantekin, Esin" uniqKey="Kantekin E" first="Esin" last="Kantekin">Esin Kantekin</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Ozkinay, Ferda" sort="Ozkinay, Ferda" uniqKey="Ozkinay F" first="Ferda" last="Ozkinay">Ferda Ozkinay</name><name sortKey="Ozturk, Taylan" sort="Ozturk, Taylan" uniqKey="Ozturk T" first="Taylan" last="Ozturk">Taylan Ozturk</name></noCountry><country name="Turquie"><noRegion><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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