LymphedemaV1, Main, Exploration, bibRecord, 005437

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Identifieur interne : 005437 ( Main/Exploration ); précédent : 005436; suivant : 005438

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Auteurs : Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Colin G. Steward [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Wesley J. Woollard [Royaume-Uni] ; Dimitra Dafou [Royaume-Uni] ; Tatjana Kilo [Australie] ; Sarah Smithson [Royaume-Uni] ; Peter Lunt [Royaume-Uni] ; Victoria A. Murday [Royaume-Uni] ; Shirley Hodgson [Royaume-Uni] ; Russell Keenan [Royaume-Uni] ; Daniela T. Pilz [Royaume-Uni] ; Ines Martinez-Corral [Royaume-Uni] ; Taija Makinen [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Richard C. Trembath [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]

Source :

Nature genetics [ 1061-4036 ] ; 2011.

RBID : Pascal:11-0471256

Descripteurs français

Pascal (Inist)
- Mutation, Lymphoedème, Prédisposition, Syndrome, Leucémie aiguë myéloblastique.

English descriptors

KwdEn :
- Acute myelogenous leukemia, Lymphedema, Mutation, Predisposition, Syndrome.

Abstract

We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 000145
to stream PascalFrancis, to step Curation: 000813
to stream PascalFrancis, to step Checkpoint: 000157
to stream Main, to step Merge: 005479
to stream Main, to step Curation: 005437

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)</title>
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<author><name sortKey="Dafou, Dimitra" sort="Dafou, Dimitra" uniqKey="Dafou D" first="Dimitra" last="Dafou">Dimitra Dafou</name>
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<author><name sortKey="Kilo, Tatjana" sort="Kilo, Tatjana" uniqKey="Kilo T" first="Tatjana" last="Kilo">Tatjana Kilo</name>
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<author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Clinical Genetics, St Michael's Hospital</s1>
<s2>Bristol</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Bristol</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Murday, Victoria A" sort="Murday, Victoria A" uniqKey="Murday V" first="Victoria A." last="Murday">Victoria A. Murday</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Clinical Genetics, Yorkhill Hospital</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Glasgow</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>South West Thames Regional Genetics Service, St. George's University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Paediatric Haematology, Alderhey Children's Hospital</s1>
<s2>Liverpool</s2>
<s3>GBR</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Liverpool</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T." last="Pilz">Daniela T. Pilz</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Institute of Medical Genetics, University Hospital of Wales</s1>
<s2>Cardiff</s2>
<s3>GBR</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Lymphatic Development Laboratory, Cancer Research UK London Research Institute</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Lymphatic Development Laboratory, Cancer Research UK London Research Institute</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Department of Cardiac and Vascular Sciences, St. George's University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics Unit, Biomedical Sciences, St. George's University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>South West Thames Regional Genetics Service, St. George's University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acute myelogenous leukemia</term>
<term>Lymphedema</term>
<term>Mutation</term>
<term>Predisposition</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Lymphoedème</term>
<term>Prédisposition</term>
<term>Syndrome</term>
<term>Leucémie aiguë myéloblastique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Nouvelle-Galles du Sud</li>
</region>
<settlement><li>Londres</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université de Londres</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
</region>
<name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name>
<name sortKey="Dafou, Dimitra" sort="Dafou, Dimitra" uniqKey="Dafou D" first="Dimitra" last="Dafou">Dimitra Dafou</name>
<name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name>
<name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name>
<name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name>
<name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name>
<name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<name sortKey="Murday, Victoria A" sort="Murday, Victoria A" uniqKey="Murday V" first="Victoria A." last="Murday">Victoria A. Murday</name>
<name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T." last="Pilz">Daniela T. Pilz</name>
<name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name>
<name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name>
<name sortKey="Steward, Colin G" sort="Steward, Colin G" uniqKey="Steward C" first="Colin G." last="Steward">Colin G. Steward</name>
<name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name>
<name sortKey="Woollard, Wesley J" sort="Woollard, Wesley J" uniqKey="Woollard W" first="Wesley J." last="Woollard">Wesley J. Woollard</name>
</country>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Kilo, Tatjana" sort="Kilo, Tatjana" uniqKey="Kilo T" first="Tatjana" last="Kilo">Tatjana Kilo</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

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