Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Identifieur interne : 002231 ( PubMed/Curation ); précédent : 002230; suivant : 002232Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Auteurs : Natalia Babkina [États-Unis] ; Joshua L. Deignan [États-Unis] ; Hane Lee [États-Unis] ; Eric Vilain [États-Unis] ; Raman Sankar [États-Unis] ; Irina Giurgea [France] ; David Mowat [Australie] ; John M. Graham [États-Unis]Source :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Déficience intellectuelle (diagnostic), Déficience intellectuelle (génétique), Exome, Faciès, Humains, Maladie de Hirschsprung (diagnostic), Maladie de Hirschsprung (génétique), Microcéphalie (diagnostic), Microcéphalie (génétique), Nouveau-né, Protéines de répression (génétique), Protéines à homéodomaine (génétique), Spasmes infantiles (diagnostic), Spasmes infantiles (génétique), Spasmes infantiles (physiopathologie), Syndrome d'Aicardi (diagnostic), Syndrome d'Aicardi (génétique), Syndrome d'Aicardi (physiopathologie), Électroencéphalographie.
- MESH :
- diagnostic : Déficience intellectuelle, Maladie de Hirschsprung, Microcéphalie, Spasmes infantiles, Syndrome d'Aicardi.
- génétique : Déficience intellectuelle, Maladie de Hirschsprung, Microcéphalie, Protéines de répression, Protéines à homéodomaine, Spasmes infantiles, Syndrome d'Aicardi.
- physiopathologie : Spasmes infantiles, Syndrome d'Aicardi.
- Analyse de mutations d'ADN, Exome, Faciès, Humains, Nouveau-né, Électroencéphalographie.
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
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<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>
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<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>
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<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>
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