A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.
Identifieur interne : 001299 ( PubMed/Corpus ); précédent : 001298; suivant : 001300A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.
Auteurs : Carole Sargent ; Julien Bauer ; Muhamed Khalil ; Parker Filmore ; Michael Bernas ; Marlys Witte ; M Peggy Pearson ; Robert P. EricksonSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2014.
English descriptors
- KwdEn :
- DNA Copy Number Variations, Edema (diagnosis), Edema (genetics), Female, Forkhead Transcription Factors (genetics), Genetic Association Studies, Homozygote, Humans, Lymphedema (diagnosis), Lymphedema (genetics), Male, Mutation, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Severity of Illness Index.
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- diagnosis : Edema, Lymphedema.
- genetics : Edema, Lymphedema.
- DNA Copy Number Variations, Female, Genetic Association Studies, Homozygote, Humans, Male, Mutation, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Severity of Illness Index.
Abstract
We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Karyotypes disclosed an extra band in Xp in one affected fetus, but this was also found in the mother. Copy number variation (CNV) studies on four members of the pedigree (mother of the three severely affected fetuses/infants; one severely affected; a full, and a half, unaffected sibs) did not detect the source of the Xp band or a possible influence on the severe phenotype. However, use of SNP arrays did allow identification of the portion of the maternal proximal Xp shared by a hydrops-affected daughter and son which was not shared by an unaffected daughter from the same sibship.
DOI: 10.1002/ajmg.a.36736
PubMed: 25252123
Links to Exploration step
pubmed:25252123Le document en format XML
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Erickson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25252123</idno><idno type="pmid">25252123</idno><idno type="doi">10.1002/ajmg.a.36736</idno><idno type="wicri:Area/PubMed/Corpus">001299</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001299</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.</title><author><name sortKey="Sargent, Carole" sort="Sargent, Carole" uniqKey="Sargent C" first="Carole" last="Sargent">Carole Sargent</name><affiliation><nlm:affiliation>Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Bauer, Julien" sort="Bauer, Julien" uniqKey="Bauer J" first="Julien" last="Bauer">Julien Bauer</name></author><author><name sortKey="Khalil, Muhamed" sort="Khalil, Muhamed" uniqKey="Khalil M" first="Muhamed" last="Khalil">Muhamed Khalil</name></author><author><name sortKey="Filmore, Parker" sort="Filmore, Parker" uniqKey="Filmore P" first="Parker" last="Filmore">Parker Filmore</name></author><author><name sortKey="Bernas, Michael" sort="Bernas, Michael" uniqKey="Bernas M" first="Michael" last="Bernas">Michael Bernas</name></author><author><name sortKey="Witte, Marlys" sort="Witte, Marlys" uniqKey="Witte M" first="Marlys" last="Witte">Marlys Witte</name></author><author><name sortKey="Pearson, M Peggy" sort="Pearson, M Peggy" uniqKey="Pearson M" first="M Peggy" last="Pearson">M Peggy Pearson</name></author><author><name sortKey="Erickson, Robert P" sort="Erickson, Robert P" uniqKey="Erickson R" first="Robert P" last="Erickson">Robert P. Erickson</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Copy Number Variations</term><term>Edema (diagnosis)</term><term>Edema (genetics)</term><term>Female</term><term>Forkhead Transcription Factors (genetics)</term><term>Genetic Association Studies</term><term>Homozygote</term><term>Humans</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Edema</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Edema</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Copy Number Variations</term><term>Female</term><term>Genetic Association Studies</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Karyotypes disclosed an extra band in Xp in one affected fetus, but this was also found in the mother. Copy number variation (CNV) studies on four members of the pedigree (mother of the three severely affected fetuses/infants; one severely affected; a full, and a half, unaffected sibs) did not detect the source of the Xp band or a possible influence on the severe phenotype. However, use of SNP arrays did allow identification of the portion of the maternal proximal Xp shared by a hydrops-affected daughter and son which was not shared by an unaffected daughter from the same sibship.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25252123</PMID><DateCreated><Year>2014</Year><Month>10</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>16</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>164A</Volume><Issue>11</Issue><PubDate><Year>2014</Year><Month>Nov</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.</ArticleTitle><Pagination><MedlinePgn>2802-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.36736</ELocationID><Abstract><AbstractText>We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Karyotypes disclosed an extra band in Xp in one affected fetus, but this was also found in the mother. Copy number variation (CNV) studies on four members of the pedigree (mother of the three severely affected fetuses/infants; one severely affected; a full, and a half, unaffected sibs) did not detect the source of the Xp band or a possible influence on the severe phenotype. However, use of SNP arrays did allow identification of the portion of the maternal proximal Xp shared by a hydrops-affected daughter and son which was not shared by an unaffected daughter from the same sibship.</AbstractText><CopyrightInformation>© 2014 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sargent</LastName><ForeName>Carole</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Julien</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Khalil</LastName><ForeName>Muhamed</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Filmore</LastName><ForeName>Parker</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Bernas</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Witte</LastName><ForeName>Marlys</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Pearson</LastName><ForeName>M Peggy</ForeName><Initials>MP</Initials></Author><Author ValidYN="Y"><LastName>Erickson</LastName><ForeName>Robert P</ForeName><Initials>RP</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R25 HL108837</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>T35 HL007479</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>HL07479</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><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>2014</Year><Month>09</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>FASEB J. 2011 Aug;25(8):2615-25</RefSource><PMID Version="1">21515745</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Circ J. 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MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="N">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006720" MajorTopicYN="N">Homozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="Y">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012720" MajorTopicYN="N">Severity of Illness Index</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS619086</OtherID><OtherID Source="NLM">PMC4205179</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">FOXC2</Keyword><Keyword MajorTopicYN="N">Xp</Keyword><Keyword MajorTopicYN="N">fetal hydrops</Keyword><Keyword MajorTopicYN="N">lymphedema</Keyword><Keyword MajorTopicYN="N">lymphedema distichiasis</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>04</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>07</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>9</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>9</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>5</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25252123</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.36736</ArticleId><ArticleId IdType="pmc">PMC4205179</ArticleId><ArticleId IdType="mid">NIHMS619086</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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