Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Identifieur interne : 000927 ( Pmc/Curation ); précédent : 000926; suivant : 000928Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Auteurs : Elisavet Fotiou [Royaume-Uni] ; Silvia Martin-Almedina [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Shin Lin [États-Unis] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Iona Jeffery [Royaume-Uni] ; David C. Rees [Royaume-Uni] ; Cyril Mignot [France] ; Julie Vogt [Royaume-Uni] ; Tessa Homfray [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Stanley G. Rockson [États-Unis] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni]Source :
- Nature Communications [ 2041-1723 ] ; 2015.
Abstract
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in
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DOI: 10.1038/ncomms9085
PubMed: 26333996
PubMed Central: 4568316
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Simpson</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital</institution>, London SE1 9RY,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Division of Cardiovascular Medicine, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="a4"><institution>Department of Genetics, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Dermatology, St. George's Healthcare NHS Trust</institution>, London SW17 0QT,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Iona" sort="Jeffery, Iona" uniqKey="Jeffery I" first="Iona" last="Jeffery">Iona Jeffery</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>Pathology Department, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rees, David C" sort="Rees, David C" uniqKey="Rees D" first="David C." last="Rees">David C. Rees</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital</institution>, London SE5 9RS,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:aff id="a9"><institution>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares</institution>, 75013 Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham B15 2TG,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Snyder, Michael P" sort="Snyder, Michael P" uniqKey="Snyder M" first="Michael P." last="Snyder">Michael P. Snyder</name><affiliation wicri:level="1"><nlm:aff id="a4"><institution>Department of Genetics, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G." last="Rockson">Stanley G. Rockson</name><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Division of Cardiovascular Medicine, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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="1"><nlm:aff id="a1"><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature Communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in <italic>PIEZO1</italic>, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in <italic>PIEZO1</italic>, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Connell, F C" uniqKey="Connell F">F. C. Connell</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Nat Commun</journal-id><journal-id journal-id-type="iso-abbrev">Nat Commun</journal-id><journal-title-group><journal-title>Nature Communications</journal-title></journal-title-group><issn pub-type="epub">2041-1723</issn><publisher><publisher-name>Nature Pub. Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26333996</article-id><article-id pub-id-type="pmc">4568316</article-id><article-id pub-id-type="pii">ncomms9085</article-id><article-id pub-id-type="doi">10.1038/ncomms9085</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Novel mutations in <italic>PIEZO1</italic> cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Fotiou</surname><given-names>Elisavet</given-names></name><xref ref-type="aff" rid="a1">1</xref><xref ref-type="author-notes" rid="n1">*</xref></contrib><contrib contrib-type="author"><name><surname>Martin-Almedina</surname><given-names>Silvia</given-names></name><xref ref-type="aff" rid="a1">1</xref><xref ref-type="author-notes" rid="n1">*</xref></contrib><contrib contrib-type="author"><name><surname>Simpson</surname><given-names>Michael A.</given-names></name><xref ref-type="aff" rid="a2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Shin</given-names></name><xref ref-type="aff" rid="a3">3</xref><xref ref-type="aff" rid="a4">4</xref></contrib><contrib contrib-type="author"><name><surname>Gordon</surname><given-names>Kristiana</given-names></name><xref ref-type="aff" rid="a5">5</xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Glen</given-names></name><xref ref-type="aff" rid="a6">6</xref></contrib><contrib contrib-type="author"><name><surname>Atton</surname><given-names>Giles</given-names></name><xref ref-type="aff" rid="a6">6</xref></contrib><contrib contrib-type="author"><name><surname>Jeffery</surname><given-names>Iona</given-names></name><xref ref-type="aff" rid="a7">7</xref></contrib><contrib contrib-type="author"><name><surname>Rees</surname><given-names>David C.</given-names></name><xref ref-type="aff" rid="a8">8</xref></contrib><contrib contrib-type="author"><name><surname>Mignot</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="a9">9</xref></contrib><contrib contrib-type="author"><name><surname>Vogt</surname><given-names>Julie</given-names></name><xref ref-type="aff" rid="a10">10</xref></contrib><contrib contrib-type="author"><name><surname>Homfray</surname><given-names>Tessa</given-names></name><xref ref-type="aff" rid="a6">6</xref></contrib><contrib contrib-type="author"><name><surname>Snyder</surname><given-names>Michael P.</given-names></name><xref ref-type="aff" rid="a4">4</xref></contrib><contrib contrib-type="author"><name><surname>Rockson</surname><given-names>Stanley G.</given-names></name><xref ref-type="aff" rid="a3">3</xref></contrib><contrib contrib-type="author"><name><surname>Jeffery</surname><given-names>Steve</given-names></name><xref ref-type="aff" rid="a1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mortimer</surname><given-names>Peter S.</given-names></name><xref ref-type="aff" rid="a1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mansour</surname><given-names>Sahar</given-names></name><xref ref-type="aff" rid="a6">6</xref></contrib><contrib contrib-type="author"><name><surname>Ostergaard</surname><given-names>Pia</given-names></name><xref ref-type="corresp" rid="c1">a</xref><xref ref-type="aff" rid="a1">1</xref><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-2190-1356</contrib-id></contrib><aff id="a1"><label>1</label><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></aff><aff id="a2"><label>2</label><institution>Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital</institution>, London SE1 9RY,<country>UK</country></aff><aff id="a3"><label>3</label><institution>Division of Cardiovascular Medicine, Stanford University</institution>, Stanford, California 94305,<country>USA</country></aff><aff id="a4"><label>4</label><institution>Department of Genetics, Stanford University</institution>, Stanford, California 94305,<country>USA</country></aff><aff id="a5"><label>5</label><institution>Department of Dermatology, St. George's Healthcare NHS Trust</institution>, London SW17 0QT,<country>UK</country></aff><aff id="a6"><label>6</label><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></aff><aff id="a7"><label>7</label><institution>Pathology Department, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></aff><aff id="a8"><label>8</label><institution>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital</institution>, London SE5 9RS,<country>UK</country></aff><aff id="a9"><label>9</label><institution>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares</institution>, 75013 Paris,<country>France</country></aff><aff id="a10"><label>10</label><institution>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham B15 2TG,<country>UK</country></aff></contrib-group><author-notes><corresp id="c1"><label>a</label><email>posterga@sgul.ac.uk</email></corresp><fn id="n1"><label>*</label><p>These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="epub"><day>03</day><month>09</month><year>2015</year></pub-date><pub-date pub-type="collection"><year>2015</year></pub-date><volume>6</volume><elocation-id>8085</elocation-id><history><date date-type="received"><day>04</day><month>03</month><year>2015</year></date><date date-type="accepted"><day>15</day><month>07</month><year>2015</year></date></history><permissions><copyright-statement>Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.</copyright-statement><copyright-year>2015</copyright-year><copyright-holder>Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/4.0/"><pmc-comment>author-paid</pmc-comment>
<license-p>This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link></license-p></license></permissions><abstract><p>Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in <italic>PIEZO1</italic>, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in <italic>PIEZO1</italic>, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.</p></abstract><abstract abstract-type="web-summary"><p><inline-graphic id="i1" xlink:href="ncomms9085-i1.jpg"></inline-graphic>Primary lymphoedema can lead to the swelling of the extremities and facial dysmorphism. Here the authors present evidence that compound heterozygous and homozygous mutations in <italic>PIEZO1</italic> result in an autosomal recessive form of generalised lymphatic dysplasia.</p></abstract></article-meta></front><floats-group><fig id="f1"><label>Figure 1</label><caption><title>Clinical findings in GLD patients with <italic>PIEZO1</italic> mutations.</title><p>Faces of (<bold>a</bold>) GLD6:II.1 at age 3.5 years, (<bold>b</bold>) GLD4:II.2 at 14 years and (<bold>c</bold>) GLD4:II.3 at 12 years, all demonstrating epicanthic folds and no current signs of facial swelling. (<bold>d</bold>) Hand swelling in subject GLD1:II.3. Foot swellings in (<bold>e</bold>) GLD4:II.2 at age 3 years and (<bold>f</bold>) GLD4:II.2 at age 14 years, and (<bold>g</bold>) subject GLD1:II.3 at age 34 years.</p></caption><graphic xlink:href="ncomms9085-f1"></graphic></fig><fig id="f2"><label>Figure 2</label><caption><title>PIEZO1 protein expression is defective in GLD patients.</title><p>Western blot analysis of PIEZO1 protein expression isolated from RBCs membranes of a healthy control subject and GLD patients. A second gel was run in parallel using GAPDH as loading control. The position of molecular mass markers (in kDa) is indicated to the left of the gel. GLD1:II.3, homozygous nonsense mutation p.E1630X; GLD2:II.2, compound heterozygous nonsense mutations p.E755X/p.Q2228X; GLD3:II.1, compound heterozygous splice site c.3796+1G>A and missense p.V2171F mutations; GLD3:I.1, heterozygous splice site c.3796+1G>A mutation; GLD3:I.2, heterozygous missense p.V2171F mutation.</p></caption><graphic xlink:href="ncomms9085-f2"></graphic></fig><fig id="f3"><label>Figure 3</label><caption><title>Blood analysis and lymphoscintigraphy.</title><p>(<bold>a</bold>) Blood film showing occasional stomatocytes (arrows) in GLD1:II.2. Scale bar, 20 μm. (<bold>b</bold>) Lower limb lymphoscintigraphy in an unaffected subject showing symmetrical migration of radionuclide through discrete lymph vessels 2 h after injection. (<bold>c</bold>) Lower limb lymphoscintigraphy of GLD4:II.3 and (<bold>d</bold>) four limb lymphoscintigraphy in GLD1:II.3. The three lymph scans have been aligned so that injection sites in the feet are all at the bottom of the panel with the groin area all at the same level at the top of <bold>b</bold> and <bold>c</bold>. The injection sites in the hands in <bold>d</bold> are the dark areas on either side of the groin region and axillary lymph nodes are visible at the top of <bold>d</bold>. The lymph scans of the two patients (<bold>c</bold>,<bold>d</bold>) show distinctive changes with poor uptake of tracer in the groin and axillae at 2 h, with evidence of rerouting in the lower limbs (seen as the dark shading of the lower limb). Popliteal lymph nodes (arrows) show prominent uptake of tracer, which is unusual and represents deep rerouting of the interstitial fluid.</p></caption><graphic xlink:href="ncomms9085-f3"></graphic></fig><table-wrap position="float" id="t1"><label>Table 1</label><caption><title>Clinical and genetic findings in GLD patients with <italic>PIEZO1</italic> mutations.</title></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="center"></col><col align="center"></col><col align="char" char="."></col><col align="center"></col><col align="char" char="."></col><col align="left"></col><col align="left"></col><col align="center"></col><col align="left"></col><col align="left"></col><col align="left"></col><col align="center"></col><col align="left"></col><col align="left"></col></colgroup><thead valign="bottom"><tr><th align="left" valign="top" charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="char" valign="top" char="." charoff="50"> </th><th colspan="3" align="center" valign="top" charoff="50"><bold>Genotyping</bold><hr></hr></th><th colspan="2" align="center" valign="top" charoff="50"><bold>Antenatalhistory</bold><hr></hr></th><th align="center" valign="top" charoff="50"><bold>Neonatalhistory</bold></th><th colspan="3" align="center" valign="top" charoff="50"><bold>Lymphoedema(postnatal andonwards)</bold><hr></hr></th><th colspan="2" align="center" valign="top" charoff="50"><bold>Additionalclinicalfeatures</bold><hr></hr></th></tr><tr><th align="left" valign="top" charoff="50"> </th><th align="center" valign="top" charoff="50"><bold>ID</bold></th><th align="center" valign="top" charoff="50"><bold>Gender</bold></th><th align="center" valign="top" char="." charoff="50"><bold>Age</bold></th><th align="center" valign="top" charoff="50"><bold>Nucleotidevariant</bold></th><th align="center" valign="top" char="." charoff="50"><bold>Exon</bold></th><th align="center" valign="top" charoff="50"><bold>Proteinalteration</bold></th><th align="center" valign="top" charoff="50"><bold>NIHF</bold></th><th align="center" valign="top" charoff="50"><bold>PH</bold></th><th align="center" valign="top" charoff="50"><bold>Oedema</bold></th><th align="center" valign="top" charoff="50"><bold>Onset</bold></th><th align="center" valign="top" charoff="50"><bold>Limbs</bold></th><th align="center" valign="top" charoff="50"><bold>Face</bold></th><th align="center" valign="top" charoff="50"><bold>Dysmorphicfeatures</bold></th><th align="center" valign="top" charoff="50"><bold>Othercomments</bold></th></tr></thead><tbody valign="top"><tr><td align="left" valign="top" charoff="50">GLD1</td><td align="center" valign="top" charoff="50">II.2<xref ref-type="fn" rid="t1-fn3">*</xref></td><td align="center" valign="top" charoff="50">M</td><td align="char" valign="top" char="." charoff="50">26</td><td align="center" valign="top" charoff="50">c.G4888T<xref ref-type="fn" rid="t1-fn4">†</xref></td><td align="char" valign="top" char="." charoff="50">36</td><td align="left" valign="top" charoff="50">p.E1630X</td><td align="left" valign="top" charoff="50">—</td><td align="center" valign="top" charoff="50">—</td><td align="left" valign="top" charoff="50">—</td><td align="left" valign="top" charoff="50">6 years</td><td align="left" valign="top" charoff="50">4 limbs</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">Micrognathia</td><td align="left" valign="top" charoff="50">Recurrentfacialcellulitis,DVT,genitaloedema</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="center" valign="top" charoff="50">II.3</td><td align="center" valign="top" charoff="50">F</td><td align="char" valign="top" char="." charoff="50">34</td><td align="center" valign="top" charoff="50">c.G4888T<xref ref-type="fn" rid="t1-fn4">†</xref></td><td align="char" valign="top" char="." charoff="50">36</td><td align="left" valign="top" charoff="50">p.E1630X</td><td align="left" valign="top" charoff="50">N</td><td align="center" valign="top" charoff="50">N</td><td align="left" valign="top" charoff="50">N</td><td align="left" valign="top" charoff="50">9 years</td><td align="left" valign="top" charoff="50">4 limbs</td><td align="center" valign="top" charoff="50">(Y)</td><td align="left" valign="top" charoff="50">N</td><td align="left" valign="top" charoff="50">CT and Pl Eat age 2 years,recurrentcellulitisin face andLL, varicoseveins</td></tr><tr><td align="left" valign="top" charoff="50">GLD2</td><td align="center" valign="top" charoff="50">II.1</td><td align="center" valign="top" charoff="50">M</td><td align="center" valign="top" char="." charoff="50">NA</td><td align="center" valign="top" charoff="50">c.G2263Tc.C6682T</td><td align="center" valign="top" char="." charoff="50">1746</td><td align="left" valign="top" charoff="50">p.E755Xp.Q2228X</td><td align="left" valign="top" charoff="50">Pl E,A, S</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">NA</td><td align="left" valign="top" charoff="50">NA</td><td align="left" valign="top" charoff="50">NA</td><td align="center" valign="top" charoff="50">NA</td><td align="left" valign="top" charoff="50">NA</td><td align="left" valign="top" charoff="50">Died <italic>in utero</italic>at 34 weeks,amyoplasiaof diaphragm</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="center" valign="top" charoff="50">II.2<xref ref-type="fn" rid="t1-fn3">*</xref></td><td align="center" valign="top" charoff="50">M</td><td align="char" valign="top" char="." charoff="50">9</td><td align="center" valign="top" charoff="50">c.G2263Tc.C6682T</td><td align="center" valign="top" char="." charoff="50">1746</td><td align="left" valign="top" charoff="50">p.E755Xp.Q2228X</td><td align="left" valign="top" charoff="50">Pl E</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">Mildgeneralizedoedemawith Pl E</td><td align="left" valign="top" charoff="50">At birth</td><td align="left" valign="top" charoff="50">4 limbs</td><td align="center" valign="top" charoff="50">(Y)</td><td align="left" valign="top" charoff="50">Periorbitaloedema,cuppedsimpleears,epicanthicfolds,micrognathia</td><td align="left" valign="top" charoff="50">ASD, GR,CT, shortstature,pectusexcavatum,genitaloedema,splenomegaly</td></tr><tr><td align="left" valign="top" charoff="50">GLD3</td><td align="center" valign="top" charoff="50">II.1<xref ref-type="fn" rid="t1-fn3">*</xref></td><td align="center" valign="top" charoff="50">F</td><td align="char" valign="top" char="." charoff="50">16</td><td align="center" valign="top" charoff="50">c.3796+1G>A c.G6511T</td><td align="center" valign="top" char="." charoff="50">26i45</td><td align="left" valign="top" charoff="50">Donor splicesite p.V2171F</td><td align="left" valign="top" charoff="50">Pl E, A</td><td align="center" valign="top" charoff="50">—</td><td align="left" valign="top" charoff="50">Y (but resolvedrapidly)</td><td align="left" valign="top" charoff="50">6 years</td><td align="left" valign="top" charoff="50">(4 limbs)L LL</td><td align="center" valign="top" charoff="50">(Y)</td><td align="left" valign="top" charoff="50">N</td><td align="left" valign="top" charoff="50">GR, intestinallymphangiectasia,granulomaannularescoliosis.Oedemaimproved onlow fat diet</td></tr><tr><td align="left" valign="top" charoff="50">GLD4</td><td align="center" valign="top" charoff="50">II.1</td><td align="center" valign="top" charoff="50">F</td><td align="center" valign="top" char="." charoff="50">NA</td><td align="center" valign="top" charoff="50">No DNAavailable</td><td align="center" valign="top" char="." charoff="50">—</td><td align="left" valign="top" charoff="50">—</td><td align="left" valign="top" charoff="50">Pl E,severe</td><td align="center" valign="top" charoff="50">—</td><td align="left" valign="top" charoff="50">Generalizedoedema</td><td align="left" valign="top" charoff="50">At birth</td><td align="left" valign="top" charoff="50">4 limbs</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">N</td><td align="left" valign="top" charoff="50">Diedat age4 weeks</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="center" valign="top" charoff="50">II.2</td><td align="center" valign="top" charoff="50">F</td><td align="char" valign="top" char="." charoff="50">14</td><td align="center" valign="top" charoff="50">c.1669+1G>A c.C7289T</td><td align="center" valign="top" char="." charoff="50">13i50</td><td align="left" valign="top" charoff="50">Donorsplicesitep.P2430L</td><td align="left" valign="top" charoff="50">Pl E</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">L footpedal</td><td align="left" valign="top" charoff="50">L LL atbirth, RLL 10 years</td><td align="left" valign="top" charoff="50">B LL</td><td align="center" valign="top" charoff="50">(Y)</td><td align="left" valign="top" charoff="50">Epicanthicfolds</td><td align="left" valign="top" charoff="50">Cellulitis × 3</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="center" valign="top" charoff="50">II.3</td><td align="center" valign="top" charoff="50">F</td><td align="center" valign="top" char="." charoff="50">12</td><td align="center" valign="top" charoff="50">c.1669+1G>A c.C7289T</td><td align="center" valign="top" char="." charoff="50">13i50</td><td align="left" valign="top" charoff="50">Donorsplicesitep.P2430L</td><td align="left" valign="top" charoff="50">Mild</td><td align="center" valign="top" charoff="50">—</td><td align="left" valign="top" charoff="50">Oedemaresolvedbon day 1</td><td align="left" valign="top" charoff="50">R LL4y L LL8 years</td><td align="left" valign="top" charoff="50">B LL</td><td align="center" valign="top" charoff="50">(Y)</td><td align="left" valign="top" charoff="50">Epicanthicfolds</td><td align="left" valign="top" charoff="50">Cellulitis ×2 LLCellulitis ×1 face</td></tr><tr><td align="left" valign="top" charoff="50">GLD5</td><td align="center" valign="top" charoff="50">II.2</td><td align="center" valign="top" charoff="50">M</td><td align="center" valign="top" char="." charoff="50">3.5</td><td align="center" valign="top" charoff="50">c.G4888T<xref ref-type="fn" rid="t1-fn4">†</xref></td><td align="char" valign="top" char="." charoff="50">36</td><td align="left" valign="top" charoff="50">p.E1630X</td><td align="left" valign="top" charoff="50">N</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">Head andneckswelling,hydroceles</td><td align="left" valign="top" charoff="50">At birth</td><td align="left" valign="top" charoff="50">(4 limbs)</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">N</td><td align="left" valign="top" charoff="50">Intermittentfacialcellulitis,bilateralsensorineuraldeafness,hypothyroidism,milddevelopmentaldelay</td></tr><tr><td align="left" valign="top" charoff="50">GLD6</td><td align="center" valign="top" charoff="50">II.1</td><td align="center" valign="top" charoff="50">F</td><td align="char" valign="top" char="." charoff="50">3.5</td><td align="center" valign="top" charoff="50">c.C7366T c.C7374G/c.C2815A</td><td align="center" valign="top" char="." charoff="50">51 51/21</td><td align="left" valign="top" charoff="50">p.R2456Cp.F2458L/p.L939M</td><td align="left" valign="top" charoff="50">Pl E, A, S</td><td align="center" valign="top" charoff="50">Y</td><td align="left" valign="top" charoff="50">Generalizedoedema atbirth, CT</td><td align="left" valign="top" charoff="50">None</td><td align="left" valign="top" charoff="50">NA</td><td align="center" valign="top" charoff="50">NA</td><td align="left" valign="top" charoff="50">Webbed neck,periorbitaloedema,‘prune'belly</td><td align="left" valign="top" charoff="50">GR,hypothyroidat birth</td></tr></tbody></table><table-wrap-foot><fn id="t1-fn1"><p>A, ascites; ASD, atrial septal defect; B, bilateral; CT, chylothorax/chylothoraces; DVT, deep vein thrombosis; F, female; GR, gastro-esophageal reflux; L, left; LL, lower limb, M, male; N, no; NIHF, non-immune hydrops fetalis; PH, polyhydramnios; Pl E, bilateral pleural effusions; R, right; S, skin oedema; Y, yes; —, not available; NA, not applicable.</p></fn><fn id="t1-fn2"><p>Brackets indicate that swellings have been recorded for that segment in the medical notes, but are currently resolved.</p></fn><fn id="t1-fn3"><p><sup>*</sup>Exome sequenced.</p></fn><fn id="t1-fn4"><p><sup>†</sup>homozygous variant.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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