A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Identifieur interne : 000B16 ( PubMed/Corpus ); précédent : 000B15; suivant : 000B17A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Auteurs : Fatma Bastaki ; Madiha Mohamed ; Pratibha Nair ; Fatima Saif ; Nafisa Tawfiq ; Mahmoud Taleb Al-Ali ; Oliver Brandau ; Abdul Rezzak HamzehSource :
- Molecular and cellular probes [ 1096-1194 ] ; 2016.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Abnormalities, Multiple (pathology), Base Sequence, DNA Mutational Analysis (methods), Exome (genetics), Humans, Hypotrichosis, Infant, Newborn, Jordan, Lymphedema, Male, Molecular Sequence Data, Mutation, SOXF Transcription Factors (genetics), Syndrome, Telangiectasis.
- MESH :
- chemical , genetics : SOXF Transcription Factors.
- genetics : Abnormalities, Multiple, Exome.
- methods : DNA Mutational Analysis.
- pathology : Abnormalities, Multiple.
- Base Sequence, Humans, Hypotrichosis, Infant, Newborn, Jordan, Lymphedema, Male, Molecular Sequence Data, Mutation, Syndrome, Telangiectasis.
Abstract
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing. In this case, a frameshift caused by 14-nucleotide duplication in SOX18 appeared de novo resulting in a premature translational stop at the N-terminal region of the central trans-activation domain. Here we present the clinical manifestations of the above mentioned molecular lesion in the light of what is known from published SOX18 mutations.
DOI: 10.1016/j.mcp.2015.11.005
PubMed: 26631803
Links to Exploration step
pubmed:26631803Le document en format XML
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Electronic address: Abdul.hamzeh@hmaward.org.ae.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26631803</idno><idno type="pmid">26631803</idno><idno type="doi">10.1016/j.mcp.2015.11.005</idno><idno type="wicri:Area/PubMed/Corpus">000B16</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B16</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.</title><author><name sortKey="Bastaki, Fatma" sort="Bastaki, Fatma" uniqKey="Bastaki F" first="Fatma" last="Bastaki">Fatma Bastaki</name><affiliation><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation></affiliation></author><author><name sortKey="Mohamed, Madiha" sort="Mohamed, Madiha" uniqKey="Mohamed M" first="Madiha" last="Mohamed">Madiha Mohamed</name><affiliation><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation></affiliation></author><author><name sortKey="Nair, Pratibha" sort="Nair, Pratibha" uniqKey="Nair P" first="Pratibha" last="Nair">Pratibha Nair</name><affiliation><nlm:affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates.</nlm:affiliation></affiliation></author><author><name sortKey="Saif, Fatima" sort="Saif, Fatima" uniqKey="Saif F" first="Fatima" last="Saif">Fatima Saif</name><affiliation><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation></affiliation></author><author><name sortKey="Tawfiq, Nafisa" sort="Tawfiq, Nafisa" uniqKey="Tawfiq N" first="Nafisa" last="Tawfiq">Nafisa Tawfiq</name><affiliation><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation></affiliation></author><author><name sortKey="Al Ali, Mahmoud Taleb" sort="Al Ali, Mahmoud Taleb" uniqKey="Al Ali M" first="Mahmoud Taleb" last="Al-Ali">Mahmoud Taleb Al-Ali</name><affiliation><nlm:affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates.</nlm:affiliation></affiliation></author><author><name sortKey="Brandau, Oliver" sort="Brandau, Oliver" uniqKey="Brandau O" first="Oliver" last="Brandau">Oliver Brandau</name><affiliation><nlm:affiliation>Centogene AG, Schillingallee 68, Rostock 18057, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Hamzeh, Abdul Rezzak" sort="Hamzeh, Abdul Rezzak" uniqKey="Hamzeh A" first="Abdul Rezzak" last="Hamzeh">Abdul Rezzak Hamzeh</name><affiliation><nlm:affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates. Electronic address: Abdul.hamzeh@hmaward.org.ae.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Molecular and cellular probes</title><idno type="eISSN">1096-1194</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Abnormalities, Multiple (pathology)</term><term>Base Sequence</term><term>DNA Mutational Analysis (methods)</term><term>Exome (genetics)</term><term>Humans</term><term>Hypotrichosis</term><term>Infant, Newborn</term><term>Jordan</term><term>Lymphedema</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>SOXF Transcription Factors (genetics)</term><term>Syndrome</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>SOXF Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Exome</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term><term>Humans</term><term>Hypotrichosis</term><term>Infant, Newborn</term><term>Jordan</term><term>Lymphedema</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Syndrome</term><term>Telangiectasis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing. In this case, a frameshift caused by 14-nucleotide duplication in SOX18 appeared de novo resulting in a premature translational stop at the N-terminal region of the central trans-activation domain. Here we present the clinical manifestations of the above mentioned molecular lesion in the light of what is known from published SOX18 mutations.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26631803</PMID><DateCreated><Year>2016</Year><Month>02</Month><Day>07</Day></DateCreated><DateCompleted><Year>2016</Year><Month>11</Month><Day>01</Day></DateCompleted><DateRevised><Year>2016</Year><Month>12</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1096-1194</ISSN><JournalIssue CitedMedium="Internet"><Volume>30</Volume><Issue>1</Issue><PubDate><Year>2016</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Molecular and cellular probes</Title><ISOAbbreviation>Mol. Cell. Probes</ISOAbbreviation></Journal><ArticleTitle>A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.</ArticleTitle><Pagination><MedlinePgn>18-21</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.mcp.2015.11.005</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0890-8508(15)30048-7</ELocationID><Abstract><AbstractText>The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing. In this case, a frameshift caused by 14-nucleotide duplication in SOX18 appeared de novo resulting in a premature translational stop at the N-terminal region of the central trans-activation domain. Here we present the clinical manifestations of the above mentioned molecular lesion in the light of what is known from published SOX18 mutations.</AbstractText><CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bastaki</LastName><ForeName>Fatma</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mohamed</LastName><ForeName>Madiha</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nair</LastName><ForeName>Pratibha</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saif</LastName><ForeName>Fatima</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tawfiq</LastName><ForeName>Nafisa</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Al-Ali</LastName><ForeName>Mahmoud Taleb</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brandau</LastName><ForeName>Oliver</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Centogene AG, Schillingallee 68, Rostock 18057, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hamzeh</LastName><ForeName>Abdul Rezzak</ForeName><Initials>AR</Initials><AffiliationInfo><Affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates. Electronic address: Abdul.hamzeh@hmaward.org.ae.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>11</Month><Day>26</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Mol Cell Probes</MedlineTA><NlmUniqueID>8709751</NlmUniqueID><ISSNLinking>0890-8508</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C095473">SOX18 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D055760">SOXF Transcription Factors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D059472" MajorTopicYN="N">Exome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007039" MajorTopicYN="Y">Hypotrichosis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007597" MajorTopicYN="N">Jordan</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="Y">Lymphedema</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055760" MajorTopicYN="N">SOXF Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013684" MajorTopicYN="Y">Telangiectasis</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Alopecia totalis</Keyword><Keyword MajorTopicYN="N">Arab</Keyword><Keyword MajorTopicYN="N">Lymphedema</Keyword><Keyword MajorTopicYN="N">Sry-related HMG box</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>08</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>10</Month><Day>28</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>11</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>12</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>12</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>11</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26631803</ArticleId><ArticleId IdType="pii">S0890-8508(15)30048-7</ArticleId><ArticleId IdType="doi">10.1016/j.mcp.2015.11.005</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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