Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Identifieur interne : 008478 ( Ncbi/Merge ); précédent : 008477; suivant : 008479Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Auteurs : Joanna Crawford [Australie] ; Neil I. Bower [Australie] ; Benjamin M. Hogan [Australie] ; Ryan J. Taft [Australie] ; Michael T. Gabbett [Australie] ; Julie Mcgaughran [Australie] ; Cas Simons [Australie]Source :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2016.
Abstract
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mutations in CCBE1. We identified a family with two brothers presenting with primary lymphedema, and performed exome sequencing to determine the cause of their disease. Analysis of four family members showed that both affected brothers had the same rare compound heterozygous mutations in CCBE1. The presumed paternally inherited NM_133459.3:c.310G>A; p.(Asp104Asn), lies adjacent to other known pathogenic CCBE1 mutations, while the maternally inherited NM_133459.3:c.80T>C; p.(Leu27Pro) lies in the CCBE1 signal peptide, which has not previously been associated with disease. Functional analysis in a zebrafish model of lymphatic disease showed that both mutations lead to CCBE1 loss of function, confirming the pathogenicity of these variants and expanding the genotypic spectrum of lymphatic disorders. © 2016 Wiley Periodicals, Inc.
DOI: 10.1002/ajmg.a.37803
PubMed: 27345729
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Bower</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Hogan, Benjamin M" sort="Hogan, Benjamin M" uniqKey="Hogan B" first="Benjamin M" last="Hogan">Benjamin M. 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Taft</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Gabbett, Michael T" sort="Gabbett, Michael T" uniqKey="Gabbett M" first="Michael T" last="Gabbett">Michael T. 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Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mutations in CCBE1. We identified a family with two brothers presenting with primary lymphedema, and performed exome sequencing to determine the cause of their disease. Analysis of four family members showed that both affected brothers had the same rare compound heterozygous mutations in CCBE1. The presumed paternally inherited NM_133459.3:c.310G>A; p.(Asp104Asn), lies adjacent to other known pathogenic CCBE1 mutations, while the maternally inherited NM_133459.3:c.80T>C; p.(Leu27Pro) lies in the CCBE1 signal peptide, which has not previously been associated with disease. Functional analysis in a zebrafish model of lymphatic disease showed that both mutations lead to CCBE1 loss of function, confirming the pathogenicity of these variants and expanding the genotypic spectrum of lymphatic disorders. © 2016 Wiley Periodicals, Inc.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27345729</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>20</Day></DateCreated><DateRevised><Year>2016</Year><Month>09</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>170</Volume><Issue>10</Issue><PubDate><Year>2016</Year><Month>Oct</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.</ArticleTitle><Pagination><MedlinePgn>2694-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.37803</ELocationID><Abstract><AbstractText>Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mutations in CCBE1. We identified a family with two brothers presenting with primary lymphedema, and performed exome sequencing to determine the cause of their disease. Analysis of four family members showed that both affected brothers had the same rare compound heterozygous mutations in CCBE1. The presumed paternally inherited NM_133459.3:c.310G>A; p.(Asp104Asn), lies adjacent to other known pathogenic CCBE1 mutations, while the maternally inherited NM_133459.3:c.80T>C; p.(Leu27Pro) lies in the CCBE1 signal peptide, which has not previously been associated with disease. Functional analysis in a zebrafish model of lymphatic disease showed that both mutations lead to CCBE1 loss of function, confirming the pathogenicity of these variants and expanding the genotypic spectrum of lymphatic disorders. © 2016 Wiley Periodicals, Inc.</AbstractText><CopyrightInformation>© 2016 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Crawford</LastName><ForeName>Joanna</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bower</LastName><ForeName>Neil I</ForeName><Initials>NI</Initials><AffiliationInfo><Affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hogan</LastName><ForeName>Benjamin M</ForeName><Initials>BM</Initials><AffiliationInfo><Affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Taft</LastName><ForeName>Ryan J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Illumina, Inc., San Diego, California.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Medicine and Health, The George Washington University, Washington, District of Columbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gabbett</LastName><ForeName>Michael T</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McGaughran</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia. julie.mcgaughran@health.qld.gov.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Medicine, The University of Queensland, Brisbane, Queensland, Australia. julie.mcgaughran@health.qld.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simons</LastName><ForeName>Cas</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>06</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CCBE1</Keyword><Keyword MajorTopicYN="N">Hennekam syndrome</Keyword><Keyword MajorTopicYN="N">exome sequencing</Keyword><Keyword MajorTopicYN="N">lymphedema</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>03</Month><Day>01</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>06</Month><Day>07</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>6</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>6</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>6</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27345729</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.37803</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Crawford, Joanna" sort="Crawford, Joanna" uniqKey="Crawford J" first="Joanna" last="Crawford">Joanna Crawford</name></noRegion><name sortKey="Bower, Neil I" sort="Bower, Neil I" uniqKey="Bower N" first="Neil I" last="Bower">Neil I. Bower</name><name sortKey="Gabbett, Michael T" sort="Gabbett, Michael T" uniqKey="Gabbett M" first="Michael T" last="Gabbett">Michael T. Gabbett</name><name sortKey="Hogan, Benjamin M" sort="Hogan, Benjamin M" uniqKey="Hogan B" first="Benjamin M" last="Hogan">Benjamin M. Hogan</name><name sortKey="Mcgaughran, Julie" sort="Mcgaughran, Julie" uniqKey="Mcgaughran J" first="Julie" last="Mcgaughran">Julie Mcgaughran</name><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name><name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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