A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Identifieur interne : 001501 ( Main/Exploration ); précédent : 001500; suivant : 001502A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Auteurs : Fatma Bastaki [Émirats arabes unis] ; Madiha Mohamed [Émirats arabes unis] ; Pratibha Nair [Émirats arabes unis] ; Fatima Saif [Émirats arabes unis] ; Nafisa Tawfiq [Émirats arabes unis] ; Mahmoud Taleb Al-Ali [Émirats arabes unis] ; Oliver Brandau [Allemagne] ; Abdul Rezzak Hamzeh [Émirats arabes unis]Source :
- Molecular and cellular probes [ 1096-1194 ] ; 2016.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN (), Données de séquences moléculaires, Exome (génétique), Facteurs de transcription SOX-F (génétique), Humains, Hypotrichose, Jordanie, Lymphoedème, Malformations multiples (anatomopathologie), Malformations multiples (génétique), Mutation, Mâle, Nouveau-né, Syndrome, Séquence nucléotidique, Télangiectasie.
- MESH :
- anatomopathologie : Malformations multiples.
- génétique : Exome, Facteurs de transcription SOX-F, Malformations multiples.
- Analyse de mutations d'ADN, Données de séquences moléculaires, Humains, Hypotrichose, Jordanie, Lymphoedème, Mutation, Mâle, Nouveau-né, Syndrome, Séquence nucléotidique, Télangiectasie.
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
Affiliations:
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Madiha" sort="Mohamed, Madiha" uniqKey="Mohamed M" first="Madiha" last="Mohamed">Madiha Mohamed</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai</wicri:regionArea><wicri:noRegion>Dubai</wicri:noRegion></affiliation></author><author><name sortKey="Nair, Pratibha" sort="Nair, Pratibha" uniqKey="Nair P" first="Pratibha" last="Nair">Pratibha Nair</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Centre for Arab Genomic Studies, Dubai</wicri:regionArea><wicri:noRegion>Dubai</wicri:noRegion></affiliation></author><author><name sortKey="Saif, Fatima" sort="Saif, Fatima" uniqKey="Saif F" first="Fatima" last="Saif">Fatima Saif</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai</wicri:regionArea><wicri:noRegion>Dubai</wicri:noRegion></affiliation></author><author><name sortKey="Tawfiq, Nafisa" sort="Tawfiq, Nafisa" uniqKey="Tawfiq N" first="Nafisa" last="Tawfiq">Nafisa Tawfiq</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai</wicri:regionArea><wicri:noRegion>Dubai</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Centre for Arab Genomic Studies, Dubai</wicri:regionArea><wicri:noRegion>Dubai</wicri:noRegion></affiliation></author><author><name sortKey="Brandau, Oliver" sort="Brandau, Oliver" uniqKey="Brandau O" first="Oliver" last="Brandau">Oliver Brandau</name><affiliation wicri:level="1"><nlm:affiliation>Centogene AG, Schillingallee 68, Rostock 18057, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centogene AG, Schillingallee 68, Rostock 18057</wicri:regionArea><wicri:noRegion>18057</wicri:noRegion><wicri:noRegion>18057</wicri:noRegion><wicri:noRegion>Rostock 18057</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Centre for Arab Genomic Studies, Dubai, United Arab Emirates. Electronic address: Abdul.hamzeh@hmaward.org.ae.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Centre for Arab Genomic Studies, Dubai</wicri:regionArea><wicri:noRegion>Dubai</wicri:noRegion></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="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN ()</term><term>Données de séquences moléculaires</term><term>Exome (génétique)</term><term>Facteurs de transcription SOX-F (génétique)</term><term>Humains</term><term>Hypotrichose</term><term>Jordanie</term><term>Lymphoedème</term><term>Malformations multiples (anatomopathologie)</term><term>Malformations multiples (génétique)</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Syndrome</term><term>Séquence nucléotidique</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>SOXF Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Exome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Exome</term><term>Facteurs de transcription SOX-F</term><term>Malformations multiples</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><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Données de séquences moléculaires</term><term>Humains</term><term>Hypotrichose</term><term>Jordanie</term><term>Lymphoedème</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Syndrome</term><term>Séquence nucléotidique</term><term>Télangiectasie</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><affiliations><list><country><li>Allemagne</li><li>Émirats arabes unis</li></country></list><tree><country name="Émirats arabes unis"><noRegion><name sortKey="Bastaki, Fatma" sort="Bastaki, Fatma" uniqKey="Bastaki F" first="Fatma" last="Bastaki">Fatma Bastaki</name></noRegion><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><name sortKey="Hamzeh, Abdul Rezzak" sort="Hamzeh, Abdul Rezzak" uniqKey="Hamzeh A" first="Abdul Rezzak" last="Hamzeh">Abdul Rezzak Hamzeh</name><name sortKey="Mohamed, Madiha" sort="Mohamed, Madiha" uniqKey="Mohamed M" first="Madiha" last="Mohamed">Madiha Mohamed</name><name sortKey="Nair, Pratibha" sort="Nair, Pratibha" uniqKey="Nair P" first="Pratibha" last="Nair">Pratibha Nair</name><name sortKey="Saif, Fatima" sort="Saif, Fatima" uniqKey="Saif F" first="Fatima" last="Saif">Fatima Saif</name><name sortKey="Tawfiq, Nafisa" sort="Tawfiq, Nafisa" uniqKey="Tawfiq N" first="Nafisa" last="Tawfiq">Nafisa Tawfiq</name></country><country name="Allemagne"><noRegion><name sortKey="Brandau, Oliver" sort="Brandau, Oliver" uniqKey="Brandau O" first="Oliver" last="Brandau">Oliver Brandau</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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