A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
Identifieur interne : 000A96 ( PubMed/Curation ); précédent : 000A95; suivant : 000A97A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
Auteurs : Carolyn C. Jackson [États-Unis] ; Lucy Best [États-Unis] ; Lazaro Lorenzo [France] ; Jean-Laurent Casanova [États-Unis] ; Jochen Wacker [Allemagne] ; Simone Bertz [Allemagne] ; Abbas Agaimy [Allemagne] ; Thomas Harrer [Allemagne]Source :
- Journal of clinical immunology [ 1573-2592 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte, Analyse de mutations d'ADN, Consanguinité, Femelle, Fratrie, Homozygote, Humains, Jeune adulte, Lymphangiectasie intestinale (diagnostic), Lymphangiectasie intestinale (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (génétique), Mutation (génétique), Mâle, Pedigree, Protéines de liaison au calcium (génétique), Protéines de liaison au calcium (métabolisme), Protéines suppresseurs de tumeurs (génétique), Protéines suppresseurs de tumeurs (métabolisme), Régulation de l'expression des gènes (génétique), Turquie.
- MESH :
- diagnostic : Lymphangiectasie intestinale, Lymphoedème, Malformations crâniofaciales.
- génétique : Lymphangiectasie intestinale, Lymphoedème, Malformations crâniofaciales, Mutation, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs, Régulation de l'expression des gènes.
- métabolisme : Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- Adulte, Analyse de mutations d'ADN, Consanguinité, Femelle, Fratrie, Homozygote, Humains, Jeune adulte, Mâle, Pedigree, Turquie.
English descriptors
- KwdEn :
- Adult, Calcium-Binding Proteins (genetics), Calcium-Binding Proteins (metabolism), Consanguinity, Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (genetics), DNA Mutational Analysis, Female, Gene Expression Regulation (genetics), Homozygote, Humans, Lymphangiectasis, Intestinal (diagnosis), Lymphangiectasis, Intestinal (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Male, Mutation (genetics), Pedigree, Siblings, Tumor Suppressor Proteins (genetics), Tumor Suppressor Proteins (metabolism), Turkey, Young Adult.
- MESH :
- chemical , genetics : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- chemical , metabolism : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- diagnosis : Craniofacial Abnormalities, Lymphangiectasis, Intestinal, Lymphedema.
- genetics : Craniofacial Abnormalities, Gene Expression Regulation, Lymphangiectasis, Intestinal, Lymphedema, Mutation.
- Adult, Consanguinity, DNA Mutational Analysis, Female, Homozygote, Humans, Male, Pedigree, Siblings, Turkey, Young Adult.
Abstract
Collagen and calcium-binding EGF domain-containing protein 1 (CCBE1) bi-allelic mutations have been associated with syndromes of widespread congenital lymphatic dysplasia, including Hennekam Syndrome (HS). HS is characterized by lymphedema, lymphangiectasia, and intellectual disability. CCBE1 encodes a putative extracellular matrix protein but the HS-causing mutations have not been studied biochemically. We report two HS siblings, born to consanguineous parents of Turkish ancestry, whose clinical phenotype also includes protein losing enteropathy, painful relapsing chylous ascites, and hypogammaglobulinemia. We identified by whole exome and Sanger sequencing the homozygous CCBE1 C174Y mutation in both siblings. This mutation had been previously reported in another HS kindred from the Netherlands. In over-expression studies, we found increased intracellular expression of all forms (monomers, dimers, trimers) of the CCBE1 C174Y mutant protein, by Western blot, despite mutant mRNA levels similar to wild-type (WT). In addition, we detected increased secretion of the mutant CCBE1 protein by ELISA. We further found the mutant and WT proteins to be evenly distributed in the cytoplasm, by immunofluorescence and confocal microscopy. Finally, we found a strong decrease of lymphatic vessels, with a corresponding diminished expression of CCBE1, by immunohistochemistry of the patients' intestinal biopsies. In contrast, mucosal blood vessels and muscularis mucosae showed normal CCBE1 staining. Our findings show that the mutant CCBE1 C174Y protein is not loss-of-function by loss-of-expression.
DOI: 10.1007/s10875-015-0225-6
PubMed: 26686525
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Jackson</name><affiliation wicri:level="1"><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. cjackson@rockefeller.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Best, Lucy" sort="Best, Lucy" uniqKey="Best L" first="Lucy" last="Best">Lucy Best</name><affiliation wicri:level="1"><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 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Jackson</name><affiliation wicri:level="1"><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. cjackson@rockefeller.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Best, Lucy" sort="Best, Lucy" uniqKey="Best L" first="Lucy" last="Best">Lucy Best</name><affiliation wicri:level="1"><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="1"><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</nlm:affiliation><country 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Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen</wicri:regionArea></affiliation></author><author><name sortKey="Agaimy, Abbas" sort="Agaimy, Abbas" uniqKey="Agaimy A" first="Abbas" last="Agaimy">Abbas Agaimy</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen</wicri:regionArea></affiliation></author><author><name sortKey="Harrer, Thomas" sort="Harrer, Thomas" uniqKey="Harrer T" first="Thomas" last="Harrer">Thomas Harrer</name><affiliation wicri:level="1"><nlm:affiliation>Department for Internal Medicine III, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Internal Medicine III, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen</wicri:regionArea></affiliation></author></analytic><series><title level="j">Journal of clinical immunology</title><idno type="eISSN">1573-2592</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Calcium-Binding Proteins (genetics)</term><term>Calcium-Binding Proteins (metabolism)</term><term>Consanguinity</term><term>Craniofacial Abnormalities (diagnosis)</term><term>Craniofacial Abnormalities (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Expression Regulation (genetics)</term><term>Homozygote</term><term>Humans</term><term>Lymphangiectasis, Intestinal (diagnosis)</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Pedigree</term><term>Siblings</term><term>Tumor Suppressor Proteins (genetics)</term><term>Tumor Suppressor Proteins (metabolism)</term><term>Turkey</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Consanguinité</term><term>Femelle</term><term>Fratrie</term><term>Homozygote</term><term>Humains</term><term>Jeune adulte</term><term>Lymphangiectasie intestinale (diagnostic)</term><term>Lymphangiectasie intestinale (génétique)</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Malformations crâniofaciales (diagnostic)</term><term>Malformations crâniofaciales (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Protéines de liaison au calcium (génétique)</term><term>Protéines de liaison au calcium (métabolisme)</term><term>Protéines suppresseurs de tumeurs (génétique)</term><term>Protéines suppresseurs de tumeurs (métabolisme)</term><term>Régulation de l'expression des gènes (génétique)</term><term>Turquie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium-Binding Proteins</term><term>Tumor Suppressor Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Calcium-Binding Proteins</term><term>Tumor Suppressor Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Gene Expression Regulation</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term><term>Mutation</term><term>Protéines de liaison au calcium</term><term>Protéines suppresseurs de tumeurs</term><term>Régulation de l'expression des gènes</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Protéines de liaison au calcium</term><term>Protéines suppresseurs de tumeurs</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Siblings</term><term>Turkey</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Consanguinité</term><term>Femelle</term><term>Fratrie</term><term>Homozygote</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Turquie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Collagen and calcium-binding EGF domain-containing protein 1 (CCBE1) bi-allelic mutations have been associated with syndromes of widespread congenital lymphatic dysplasia, including Hennekam Syndrome (HS). HS is characterized by lymphedema, lymphangiectasia, and intellectual disability. CCBE1 encodes a putative extracellular matrix protein but the HS-causing mutations have not been studied biochemically. We report two HS siblings, born to consanguineous parents of Turkish ancestry, whose clinical phenotype also includes protein losing enteropathy, painful relapsing chylous ascites, and hypogammaglobulinemia. We identified by whole exome and Sanger sequencing the homozygous CCBE1 C174Y mutation in both siblings. This mutation had been previously reported in another HS kindred from the Netherlands. In over-expression studies, we found increased intracellular expression of all forms (monomers, dimers, trimers) of the CCBE1 C174Y mutant protein, by Western blot, despite mutant mRNA levels similar to wild-type (WT). In addition, we detected increased secretion of the mutant CCBE1 protein by ELISA. We further found the mutant and WT proteins to be evenly distributed in the cytoplasm, by immunofluorescence and confocal microscopy. Finally, we found a strong decrease of lymphatic vessels, with a corresponding diminished expression of CCBE1, by immunohistochemistry of the patients' intestinal biopsies. In contrast, mucosal blood vessels and muscularis mucosae showed normal CCBE1 staining. Our findings show that the mutant CCBE1 C174Y protein is not loss-of-function by loss-of-expression.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26686525</PMID><DateCreated><Year>2016</Year><Month>01</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>10</Month><Day>19</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-2592</ISSN><JournalIssue CitedMedium="Internet"><Volume>36</Volume><Issue>1</Issue><PubDate><Year>2016</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Journal of clinical immunology</Title><ISOAbbreviation>J. Clin. Immunol.</ISOAbbreviation></Journal><ArticleTitle>A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.</ArticleTitle><Pagination><MedlinePgn>19-27</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10875-015-0225-6</ELocationID><Abstract><AbstractText>Collagen and calcium-binding EGF domain-containing protein 1 (CCBE1) bi-allelic mutations have been associated with syndromes of widespread congenital lymphatic dysplasia, including Hennekam Syndrome (HS). HS is characterized by lymphedema, lymphangiectasia, and intellectual disability. CCBE1 encodes a putative extracellular matrix protein but the HS-causing mutations have not been studied biochemically. We report two HS siblings, born to consanguineous parents of Turkish ancestry, whose clinical phenotype also includes protein losing enteropathy, painful relapsing chylous ascites, and hypogammaglobulinemia. We identified by whole exome and Sanger sequencing the homozygous CCBE1 C174Y mutation in both siblings. This mutation had been previously reported in another HS kindred from the Netherlands. In over-expression studies, we found increased intracellular expression of all forms (monomers, dimers, trimers) of the CCBE1 C174Y mutant protein, by Western blot, despite mutant mRNA levels similar to wild-type (WT). In addition, we detected increased secretion of the mutant CCBE1 protein by ELISA. We further found the mutant and WT proteins to be evenly distributed in the cytoplasm, by immunofluorescence and confocal microscopy. Finally, we found a strong decrease of lymphatic vessels, with a corresponding diminished expression of CCBE1, by immunohistochemistry of the patients' intestinal biopsies. In contrast, mucosal blood vessels and muscularis mucosae showed normal CCBE1 staining. Our findings show that the mutant CCBE1 C174Y protein is not loss-of-function by loss-of-expression.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jackson</LastName><ForeName>Carolyn C</ForeName><Initials>CC</Initials><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. cjackson@rockefeller.edu.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, The Memorial Sloan Kettering Cancer Center, New York, NY, USA. cjackson@rockefeller.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Best</LastName><ForeName>Lucy</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lorenzo</LastName><ForeName>Lazaro</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casanova</LastName><ForeName>Jean-Laurent</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, INSERM, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Howard Hughes Medical Institute, New York, NY, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes University, Imagine Institute, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wacker</LastName><ForeName>Jochen</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bertz</LastName><ForeName>Simone</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Agaimy</LastName><ForeName>Abbas</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harrer</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department for Internal Medicine III, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P30 CA008748</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UL1 TR000043</GrantID><Acronym>TR</Acronym><Agency>NCATS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>8UL1TR000043</GrantID><Acronym>TR</Acronym><Agency>NCATS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>12</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>J Clin Immunol</MedlineTA><NlmUniqueID>8102137</NlmUniqueID><ISSNLinking>0271-9142</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C546964">CCBE1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D002135">Calcium-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D025521">Tumor Suppressor Proteins</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C537255">Hennekam lymphangiectasia lymphedema 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issue):D204-12</RefSource><PMID Version="1">25348405</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Syndromol. 2013 Mar;4(3):107-13</RefSource><PMID Version="1">23653581</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002135" MajorTopicYN="N">Calcium-Binding Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019465" MajorTopicYN="N">Craniofacial Abnormalities</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" 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MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D035781" MajorTopicYN="N">Siblings</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D025521" MajorTopicYN="N">Tumor Suppressor Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014421" MajorTopicYN="N">Turkey</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS808229 [Available on 01/01/17]</OtherID><OtherID Source="NLM">PMC4984268 [Available on 01/01/17]</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CCBE1</Keyword><Keyword MajorTopicYN="N">Hennekam Syndrome</Keyword><Keyword MajorTopicYN="N">lymphangiectasia</Keyword><Keyword MajorTopicYN="N">lymphedema</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>04</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>12</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>12</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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