LymphedemaV1, Main, Exploration, bibRecord, 001079

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

Identifieur interne : 001079 ( Main/Exploration ); précédent : 001078; suivant : 001080

Expanding 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.

RBID : pubmed:27345729

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

Affiliations:

Australie

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.</title>
<author><name sortKey="Crawford, Joanna" sort="Crawford, Joanna" uniqKey="Crawford J" first="Joanna" last="Crawford">Joanna Crawford</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="Bower, Neil I" sort="Bower, Neil I" uniqKey="Bower N" first="Neil I" last="Bower">Neil I. 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. Hogan</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="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. 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. Gabbett</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcgaughran, Julie" sort="Mcgaughran, Julie" uniqKey="Mcgaughran J" first="Julie" last="Mcgaughran">Julie Mcgaughran</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia. julie.mcgaughran@health.qld.gov.au.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</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>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2016">2016</date>
<idno type="RBID">pubmed:27345729</idno>
<idno type="pmid">27345729</idno>
<idno type="doi">10.1002/ajmg.a.37803</idno>
<idno type="wicri:Area/PubMed/Corpus">000750</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000750</idno>
<idno type="wicri:Area/PubMed/Curation">000750</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000750</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000750</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000750</idno>
<idno type="wicri:Area/Ncbi/Merge">008478</idno>
<idno type="wicri:Area/Ncbi/Curation">008478</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">008478</idno>
<idno type="wicri:Area/Main/Merge">001081</idno>
<idno type="wicri:Area/Main/Curation">001079</idno>
<idno type="wicri:Area/Main/Exploration">001079</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.</title>
<author><name sortKey="Crawford, Joanna" sort="Crawford, Joanna" uniqKey="Crawford J" first="Joanna" last="Crawford">Joanna Crawford</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="Bower, Neil I" sort="Bower, Neil I" uniqKey="Bower N" first="Neil I" last="Bower">Neil I. 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. Hogan</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="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. 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. Gabbett</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcgaughran, Julie" sort="Mcgaughran, Julie" uniqKey="Mcgaughran J" first="Julie" last="Mcgaughran">Julie Mcgaughran</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia. julie.mcgaughran@health.qld.gov.au.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</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>
</analytic>
<series><title level="j">American journal of medical genetics. 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>
<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)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001079 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001079 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     pubmed:27345729
   |texte=   Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:27345729" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.