Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Identifieur interne : 002257 ( PubMed/Corpus ); précédent : 002256; suivant : 002258Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Auteurs : Natalia Babkina ; Joshua L. Deignan ; Hane Lee ; Eric Vilain ; Raman Sankar ; Irina Giurgea ; David Mowat ; John M. GrahamSource :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
English descriptors
- KwdEn :
- Aicardi Syndrome (diagnosis), Aicardi Syndrome (genetics), Aicardi Syndrome (physiopathology), DNA Mutational Analysis, Electroencephalography, Exome, Facies, Hirschsprung Disease (diagnosis), Hirschsprung Disease (genetics), Homeodomain Proteins (genetics), Humans, Infant, Newborn, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Microcephaly (diagnosis), Microcephaly (genetics), Repressor Proteins (genetics), Spasms, Infantile (diagnosis), Spasms, Infantile (genetics), Spasms, Infantile (physiopathology).
- MESH :
- chemical , genetics : Homeodomain Proteins, Repressor Proteins.
- diagnosis : Aicardi Syndrome, Hirschsprung Disease, Intellectual Disability, Microcephaly, Spasms, Infantile.
- genetics : Aicardi Syndrome, Hirschsprung Disease, Intellectual Disability, Microcephaly, Spasms, Infantile.
- physiopathology : Aicardi Syndrome, Spasms, Infantile.
- DNA Mutational Analysis, Electroencephalography, Exome, Facies, Humans, Infant, Newborn.
Abstract
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.
DOI: 10.1016/j.ejmg.2015.12.006
PubMed: 26721324
Links to Exploration step
pubmed:26721324Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.</title><author><name sortKey="Babkina, Natalia" sort="Babkina, Natalia" uniqKey="Babkina N" first="Natalia" last="Babkina">Natalia Babkina</name><affiliation><nlm:affiliation>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: babkina.n@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Deignan, Joshua L" sort="Deignan, Joshua L" uniqKey="Deignan J" first="Joshua L" last="Deignan">Joshua L. Deignan</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Lee, Hane" sort="Lee, Hane" uniqKey="Lee H" first="Hane" last="Lee">Hane Lee</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Vilain, Eric" sort="Vilain, Eric" uniqKey="Vilain E" first="Eric" last="Vilain">Eric Vilain</name><affiliation><nlm:affiliation>Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Sankar, Raman" sort="Sankar, Raman" uniqKey="Sankar R" first="Raman" last="Sankar">Raman Sankar</name><affiliation><nlm:affiliation>Department of Neurology, Pediatrics and Children's Discovery and Innovation Institute at Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Giurgea, Irina" sort="Giurgea, Irina" uniqKey="Giurgea I" first="Irina" last="Giurgea">Irina Giurgea</name><affiliation><nlm:affiliation>Service de Biochimie Génétique, INSERM U955 Equipe 11, Hôpital Henri Mondor, 94000 Créteil, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:affiliation>Department of Medical Genetics, Sydney Children's Hospital, School of Women's and Children's Health, University of New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Graham, John M" sort="Graham, John M" uniqKey="Graham J" first="John M" last="Graham">John M. Graham</name><affiliation><nlm:affiliation>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26721324</idno><idno type="pmid">26721324</idno><idno type="doi">10.1016/j.ejmg.2015.12.006</idno><idno type="wicri:Area/PubMed/Corpus">002257</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002257</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.</title><author><name sortKey="Babkina, Natalia" sort="Babkina, Natalia" uniqKey="Babkina N" first="Natalia" last="Babkina">Natalia Babkina</name><affiliation><nlm:affiliation>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: babkina.n@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Deignan, Joshua L" sort="Deignan, Joshua L" uniqKey="Deignan J" first="Joshua L" last="Deignan">Joshua L. Deignan</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Lee, Hane" sort="Lee, Hane" uniqKey="Lee H" first="Hane" last="Lee">Hane Lee</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Vilain, Eric" sort="Vilain, Eric" uniqKey="Vilain E" first="Eric" last="Vilain">Eric Vilain</name><affiliation><nlm:affiliation>Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Sankar, Raman" sort="Sankar, Raman" uniqKey="Sankar R" first="Raman" last="Sankar">Raman Sankar</name><affiliation><nlm:affiliation>Department of Neurology, Pediatrics and Children's Discovery and Innovation Institute at Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Giurgea, Irina" sort="Giurgea, Irina" uniqKey="Giurgea I" first="Irina" last="Giurgea">Irina Giurgea</name><affiliation><nlm:affiliation>Service de Biochimie Génétique, INSERM U955 Equipe 11, Hôpital Henri Mondor, 94000 Créteil, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:affiliation>Department of Medical Genetics, Sydney Children's Hospital, School of Women's and Children's Health, University of New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Graham, John M" sort="Graham, John M" uniqKey="Graham J" first="John M" last="Graham">John M. Graham</name><affiliation><nlm:affiliation>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.</nlm:affiliation></affiliation></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aicardi Syndrome (diagnosis)</term><term>Aicardi Syndrome (genetics)</term><term>Aicardi Syndrome (physiopathology)</term><term>DNA Mutational Analysis</term><term>Electroencephalography</term><term>Exome</term><term>Facies</term><term>Hirschsprung Disease (diagnosis)</term><term>Hirschsprung Disease (genetics)</term><term>Homeodomain Proteins (genetics)</term><term>Humans</term><term>Infant, Newborn</term><term>Intellectual Disability (diagnosis)</term><term>Intellectual Disability (genetics)</term><term>Microcephaly (diagnosis)</term><term>Microcephaly (genetics)</term><term>Repressor Proteins (genetics)</term><term>Spasms, Infantile (diagnosis)</term><term>Spasms, Infantile (genetics)</term><term>Spasms, Infantile (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Homeodomain Proteins</term><term>Repressor Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Aicardi Syndrome</term><term>Hirschsprung Disease</term><term>Intellectual Disability</term><term>Microcephaly</term><term>Spasms, Infantile</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Aicardi Syndrome</term><term>Hirschsprung Disease</term><term>Intellectual Disability</term><term>Microcephaly</term><term>Spasms, Infantile</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Aicardi Syndrome</term><term>Spasms, Infantile</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Electroencephalography</term><term>Exome</term><term>Facies</term><term>Humans</term><term>Infant, Newborn</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26721324</PMID><DateCreated><Year>2016</Year><Month>02</Month><Day>07</Day></DateCreated><DateCompleted><Year>2016</Year><Month>10</Month><Day>06</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1878-0849</ISSN><JournalIssue CitedMedium="Internet"><Volume>59</Volume><Issue>2</Issue><PubDate><Year>2016</Year><Month>Feb</Month></PubDate></JournalIssue><Title>European journal of medical genetics</Title><ISOAbbreviation>Eur J Med Genet</ISOAbbreviation></Journal><ArticleTitle>Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.</ArticleTitle><Pagination><MedlinePgn>70-4</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ejmg.2015.12.006</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1769-7212(15)30061-6</ELocationID><Abstract><AbstractText>Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.</AbstractText><CopyrightInformation>Copyright © 2016. Published by Elsevier Masson SAS.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Babkina</LastName><ForeName>Natalia</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: babkina.n@gmail.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Deignan</LastName><ForeName>Joshua L</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Hane</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vilain</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sankar</LastName><ForeName>Raman</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology, Pediatrics and Children's Discovery and Innovation Institute at Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Giurgea</LastName><ForeName>Irina</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Service de Biochimie Génétique, INSERM U955 Equipe 11, Hôpital Henri Mondor, 94000 Créteil, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mowat</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Sydney Children's Hospital, School of Women's and Children's Health, University of New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Graham</LastName><ForeName>John M</ForeName><Initials>JM</Initials><Suffix>Jr</Suffix><AffiliationInfo><Affiliation>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>12</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Eur J Med Genet</MedlineTA><NlmUniqueID>101247089</NlmUniqueID><ISSNLinking>1769-7212</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018398">Homeodomain Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D012097">Repressor Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C492363">ZEB2 protein, human</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C567924">Epileptic Encephalopathy, Early Infantile, 1</SupplMeshName><SupplMeshName Type="Disease" UI="C536990">Mowat-Wilson syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D058540" MajorTopicYN="N">Aicardi Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004569" MajorTopicYN="N">Electroencephalography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D059472" MajorTopicYN="N">Exome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019066" MajorTopicYN="N">Facies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006627" MajorTopicYN="N">Hirschsprung Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018398" MajorTopicYN="N">Homeodomain Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></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="D012097" MajorTopicYN="N">Repressor Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013036" MajorTopicYN="N">Spasms, Infantile</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Burst-suppression EEG pattern</Keyword><Keyword MajorTopicYN="N">Clinical exome sequencing</Keyword><Keyword MajorTopicYN="N">Cortical gray and white matter atrophy</Keyword><Keyword MajorTopicYN="N">Developmental delay</Keyword><Keyword MajorTopicYN="N">Infantile Epileptic Encephalopathy (EIEE)</Keyword><Keyword MajorTopicYN="N">Infantile spasms</Keyword><Keyword MajorTopicYN="N">Mowat–Wilson syndrome (MWS)</Keyword><Keyword MajorTopicYN="N">Seizures</Keyword><Keyword MajorTopicYN="N">ZEB2</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>04</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>11</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>12</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>1</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>1</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>10</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26721324</ArticleId><ArticleId IdType="pii">S1769-7212(15)30061-6</ArticleId><ArticleId IdType="doi">10.1016/j.ejmg.2015.12.006</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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