Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
Identifieur interne : 000A67 ( PubMed/Checkpoint ); précédent : 000A66; suivant : 000A68Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
Auteurs : Florian Wünnemann [Allemagne] ; Victor Kokta [Canada] ; Séverine Leclerc [Canada] ; Maryse Thibeault [Canada] ; Catherine Mccuaig [Canada] ; Afshin Hatami [Canada] ; Chantal Stheneur [Canada] ; Jean-Christophe Grenier [Canada] ; Philip Awadalla [Canada] ; Grant A. Mitchell [Canada] ; Gregor Andelfinger [Canada] ; Christoph Preuss [Canada]Source :
- The Canadian journal of cardiology [ 1916-7075 ] ; 2016.
Descripteurs français
- KwdFr :
- ADN (génétique), Adolescent, Analyse de mutations d'ADN, Anévrysme de l'aorte thoracique (diagnostic), Anévrysme de l'aorte thoracique (génétique), Anévrysme de l'aorte thoracique (métabolisme), Biopsie, Facteurs de transcription SOX-F (génétique), Facteurs de transcription SOX-F (métabolisme), Femelle, Humains, Hypotrichose (diagnostic), Hypotrichose (génétique), Hypotrichose (métabolisme), Lymphoedème (diagnostic), Lymphoedème (génétique), Lymphoedème (métabolisme), Mutation, Phénotype, Réaction de polymérisation en chaîne, Télangiectasie (diagnostic), Télangiectasie (génétique), Télangiectasie (métabolisme), Échocardiographie.
- MESH :
- diagnostic : Anévrysme de l'aorte thoracique, Hypotrichose, Lymphoedème, Télangiectasie.
- génétique : ADN, Anévrysme de l'aorte thoracique, Facteurs de transcription SOX-F, Hypotrichose, Lymphoedème, Télangiectasie.
- métabolisme : Anévrysme de l'aorte thoracique, Facteurs de transcription SOX-F, Hypotrichose, Lymphoedème, Télangiectasie.
- Adolescent, Analyse de mutations d'ADN, Biopsie, Femelle, Humains, Mutation, Phénotype, Réaction de polymérisation en chaîne, Échocardiographie.
English descriptors
- KwdEn :
- Adolescent, Aortic Aneurysm, Thoracic (diagnosis), Aortic Aneurysm, Thoracic (genetics), Aortic Aneurysm, Thoracic (metabolism), Biopsy, DNA (genetics), DNA Mutational Analysis, Echocardiography, Female, Humans, Hypotrichosis (diagnosis), Hypotrichosis (genetics), Hypotrichosis (metabolism), Lymphedema (diagnosis), Lymphedema (genetics), Lymphedema (metabolism), Mutation, Phenotype, Polymerase Chain Reaction, SOXF Transcription Factors (genetics), SOXF Transcription Factors (metabolism), Telangiectasis (diagnosis), Telangiectasis (genetics), Telangiectasis (metabolism).
- MESH :
- chemical , genetics : DNA, SOXF Transcription Factors.
- diagnosis : Aortic Aneurysm, Thoracic, Hypotrichosis, Lymphedema, Telangiectasis.
- genetics : Aortic Aneurysm, Thoracic, Hypotrichosis, Lymphedema, Telangiectasis.
- metabolism : Aortic Aneurysm, Thoracic, Hypotrichosis, Lymphedema, SOXF Transcription Factors, Telangiectasis.
- Adolescent, Biopsy, DNA Mutational Analysis, Echocardiography, Female, Humans, Mutation, Phenotype, Polymerase Chain Reaction.
Abstract
We report a 13-year-old female patient followed since birth for multiple rare congenital defects, including hypotrichosis, telangiectasia, and severe dilatation of the ascending aorta.
DOI: 10.1016/j.cjca.2015.04.004
PubMed: 26148450
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.</title><author><name sortKey="Wunnemann, Florian" sort="Wunnemann, Florian" uniqKey="Wunnemann F" first="Florian" last="Wünnemann">Florian Wünnemann</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Faculty of Biology, University of Muenster, Muenster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Faculty of Biology, University of Muenster, 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Mccuaig</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Hatami, Afshin" sort="Hatami, Afshin" uniqKey="Hatami A" first="Afshin" last="Hatami">Afshin Hatami</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Stheneur, Chantal" sort="Stheneur, Chantal" uniqKey="Stheneur C" first="Chantal" last="Stheneur">Chantal Stheneur</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Grenier, Jean Christophe" sort="Grenier, Jean Christophe" uniqKey="Grenier J" first="Jean-Christophe" last="Grenier">Jean-Christophe Grenier</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Awadalla, Philip" sort="Awadalla, Philip" uniqKey="Awadalla P" first="Philip" last="Awadalla">Philip Awadalla</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada; Ontario Instiute for Cancer Research, MaRS Centre, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada; Ontario Instiute for Cancer Research, MaRS Centre, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Mitchell, Grant A" sort="Mitchell, Grant A" uniqKey="Mitchell G" first="Grant A" last="Mitchell">Grant A. 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Faculty of Biology, University of Muenster, Muenster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Faculty of Biology, University of Muenster, Muenster</wicri:regionArea><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion></affiliation></author><author><name sortKey="Kokta, Victor" sort="Kokta, Victor" uniqKey="Kokta V" first="Victor" last="Kokta">Victor Kokta</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Leclerc, Severine" sort="Leclerc, Severine" uniqKey="Leclerc S" first="Séverine" last="Leclerc">Séverine Leclerc</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Thibeault, Maryse" sort="Thibeault, Maryse" uniqKey="Thibeault M" first="Maryse" last="Thibeault">Maryse Thibeault</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Mccuaig, Catherine" sort="Mccuaig, Catherine" uniqKey="Mccuaig C" first="Catherine" last="Mccuaig">Catherine Mccuaig</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Hatami, Afshin" sort="Hatami, Afshin" uniqKey="Hatami A" first="Afshin" last="Hatami">Afshin Hatami</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Stheneur, Chantal" sort="Stheneur, Chantal" uniqKey="Stheneur C" first="Chantal" last="Stheneur">Chantal Stheneur</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Grenier, Jean Christophe" sort="Grenier, Jean Christophe" uniqKey="Grenier J" first="Jean-Christophe" last="Grenier">Jean-Christophe Grenier</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Awadalla, Philip" sort="Awadalla, Philip" uniqKey="Awadalla P" first="Philip" last="Awadalla">Philip Awadalla</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada; Ontario Instiute for Cancer Research, MaRS Centre, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada; Ontario Instiute for Cancer Research, MaRS Centre, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Mitchell, Grant A" sort="Mitchell, Grant A" uniqKey="Mitchell G" first="Grant A" last="Mitchell">Grant A. Mitchell</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Andelfinger, Gregor" sort="Andelfinger, Gregor" uniqKey="Andelfinger G" first="Gregor" last="Andelfinger">Gregor Andelfinger</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Preuss, Christoph" sort="Preuss, Christoph" uniqKey="Preuss C" first="Christoph" last="Preuss">Christoph Preuss</name><affiliation wicri:level="1"><nlm:affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada. Electronic address: ch.preuss@gmail.com.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Canadian journal of cardiology</title><idno type="eISSN">1916-7075</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Aortic Aneurysm, Thoracic (diagnosis)</term><term>Aortic Aneurysm, Thoracic (genetics)</term><term>Aortic Aneurysm, Thoracic (metabolism)</term><term>Biopsy</term><term>DNA (genetics)</term><term>DNA Mutational Analysis</term><term>Echocardiography</term><term>Female</term><term>Humans</term><term>Hypotrichosis (diagnosis)</term><term>Hypotrichosis (genetics)</term><term>Hypotrichosis (metabolism)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Lymphedema (metabolism)</term><term>Mutation</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>SOXF Transcription Factors (genetics)</term><term>SOXF Transcription Factors (metabolism)</term><term>Telangiectasis (diagnosis)</term><term>Telangiectasis (genetics)</term><term>Telangiectasis (metabolism)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN (génétique)</term><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Anévrysme de l'aorte thoracique (diagnostic)</term><term>Anévrysme de l'aorte thoracique (génétique)</term><term>Anévrysme de l'aorte thoracique (métabolisme)</term><term>Biopsie</term><term>Facteurs de transcription SOX-F (génétique)</term><term>Facteurs de transcription SOX-F (métabolisme)</term><term>Femelle</term><term>Humains</term><term>Hypotrichose (diagnostic)</term><term>Hypotrichose (génétique)</term><term>Hypotrichose (métabolisme)</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (métabolisme)</term><term>Mutation</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Télangiectasie (diagnostic)</term><term>Télangiectasie (génétique)</term><term>Télangiectasie (métabolisme)</term><term>Échocardiographie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>SOXF Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Aortic Aneurysm, Thoracic</term><term>Hypotrichosis</term><term>Lymphedema</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anévrysme de l'aorte thoracique</term><term>Hypotrichose</term><term>Lymphoedème</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Aortic Aneurysm, Thoracic</term><term>Hypotrichosis</term><term>Lymphedema</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ADN</term><term>Anévrysme de l'aorte thoracique</term><term>Facteurs de transcription SOX-F</term><term>Hypotrichose</term><term>Lymphoedème</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Aortic Aneurysm, Thoracic</term><term>Hypotrichosis</term><term>Lymphedema</term><term>SOXF Transcription Factors</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Anévrysme de l'aorte thoracique</term><term>Facteurs de transcription SOX-F</term><term>Hypotrichose</term><term>Lymphoedème</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Biopsy</term><term>DNA Mutational Analysis</term><term>Echocardiography</term><term>Female</term><term>Humans</term><term>Mutation</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Biopsie</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Échocardiographie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a 13-year-old female patient followed since birth for multiple rare congenital defects, including hypotrichosis, telangiectasia, and severe dilatation of the ascending aorta.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26148450</PMID><DateCreated><Year>2016</Year><Month>01</Month><Day>03</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>03</Day></DateCompleted><DateRevised><Year>2016</Year><Month>01</Month><Day>03</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1916-7075</ISSN><JournalIssue CitedMedium="Internet"><Volume>32</Volume><Issue>1</Issue><PubDate><Year>2016</Year><Month>Jan</Month></PubDate></JournalIssue><Title>The Canadian journal of cardiology</Title><ISOAbbreviation>Can J Cardiol</ISOAbbreviation></Journal><ArticleTitle>Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.</ArticleTitle><Pagination><MedlinePgn>135.e1-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.cjca.2015.04.004</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0828-282X(15)00280-9</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">We report a 13-year-old female patient followed since birth for multiple rare congenital defects, including hypotrichosis, telangiectasia, and severe dilatation of the ascending aorta.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Comprehensive phenotype assessment throughout childhood included repeated echocardiographic measurements, evaluation of renal function, and immunohistochemical analysis of skin biopsy samples. Whole-exome sequencing was performed for the patient and both unaffected parents.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified a novel de novo mutation in the transcription factor SOX18 (c.481C>T:p.Gln161*) in the patient, which was absent in all unaffected family members. Echocardiography revealed early onset and progressive dilatation of the ascending aorta. Skin biopsy results confirmed the defects of the blood vasculature in the presence of intact lymphatic vessels. Assessment of renal function did not show any signs of renal problems or renal failure in the patient.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The genetic finding of a pathogenic SOX18 mutation enabled the diagnosis of the rare hypotrichosis-lymphedema-telangiectasia syndrome in our patient. The identification of a novel stop gain mutation in the SOX18 gene in association with dilatation of the aorta highlights the importance of this gene during the development of the circulatory system. Our study highlights the importance of whole-exome sequencing in the rapid identification of genes and gene mutations involved in rare conditions and thus expanding the knowledge and spectrum of clinical manifestations associated with them.</AbstractText><CopyrightInformation>Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wünnemann</LastName><ForeName>Florian</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Faculty of Biology, University of Muenster, Muenster, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kokta</LastName><ForeName>Victor</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Pathology, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leclerc</LastName><ForeName>Séverine</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thibeault</LastName><ForeName>Maryse</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McCuaig</LastName><ForeName>Catherine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hatami</LastName><ForeName>Afshin</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Dermatology Service, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stheneur</LastName><ForeName>Chantal</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grenier</LastName><ForeName>Jean-Christophe</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Awadalla</LastName><ForeName>Philip</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada; Ontario Instiute for Cancer Research, MaRS Centre, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mitchell</LastName><ForeName>Grant A</ForeName><Initials>GA</Initials><AffiliationInfo><Affiliation>Centre de Recherche, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andelfinger</LastName><ForeName>Gregor</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Preuss</LastName><ForeName>Christoph</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada. Electronic address: ch.preuss@gmail.com.</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>04</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Can J Cardiol</MedlineTA><NlmUniqueID>8510280</NlmUniqueID><ISSNLinking>0828-282X</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><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C564327">Hypotrichosis-Lymphedema-Telangiectasia Syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017545" MajorTopicYN="N">Aortic Aneurysm, Thoracic</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001706" MajorTopicYN="N">Biopsy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004247" MajorTopicYN="N">DNA</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004452" MajorTopicYN="N">Echocardiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007039" MajorTopicYN="N">Hypotrichosis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055760" MajorTopicYN="N">SOXF Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013684" MajorTopicYN="N">Telangiectasis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>12</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>03</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>04</Month><Day>04</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>7</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>7</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26148450</ArticleId><ArticleId IdType="pii">S0828-282X(15)00280-9</ArticleId><ArticleId IdType="doi">10.1016/j.cjca.2015.04.004</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Canada</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Wunnemann, Florian" sort="Wunnemann, Florian" uniqKey="Wunnemann F" first="Florian" last="Wünnemann">Florian Wünnemann</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Kokta, Victor" sort="Kokta, Victor" uniqKey="Kokta V" first="Victor" last="Kokta">Victor Kokta</name></noRegion><name sortKey="Andelfinger, Gregor" sort="Andelfinger, Gregor" uniqKey="Andelfinger G" first="Gregor" last="Andelfinger">Gregor Andelfinger</name><name sortKey="Awadalla, Philip" sort="Awadalla, Philip" uniqKey="Awadalla P" first="Philip" last="Awadalla">Philip Awadalla</name><name sortKey="Grenier, Jean Christophe" sort="Grenier, Jean Christophe" uniqKey="Grenier J" first="Jean-Christophe" last="Grenier">Jean-Christophe Grenier</name><name sortKey="Hatami, Afshin" sort="Hatami, Afshin" uniqKey="Hatami A" first="Afshin" last="Hatami">Afshin Hatami</name><name sortKey="Leclerc, Severine" sort="Leclerc, Severine" uniqKey="Leclerc S" first="Séverine" last="Leclerc">Séverine Leclerc</name><name sortKey="Mccuaig, Catherine" sort="Mccuaig, Catherine" uniqKey="Mccuaig C" first="Catherine" last="Mccuaig">Catherine Mccuaig</name><name sortKey="Mitchell, Grant A" sort="Mitchell, Grant A" uniqKey="Mitchell G" first="Grant A" last="Mitchell">Grant A. Mitchell</name><name sortKey="Preuss, Christoph" sort="Preuss, Christoph" uniqKey="Preuss C" first="Christoph" last="Preuss">Christoph Preuss</name><name sortKey="Stheneur, Chantal" sort="Stheneur, Chantal" uniqKey="Stheneur C" first="Chantal" last="Stheneur">Chantal Stheneur</name><name sortKey="Thibeault, Maryse" sort="Thibeault, Maryse" uniqKey="Thibeault M" first="Maryse" last="Thibeault">Maryse Thibeault</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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