Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
Identifieur interne : 000047 ( Pmc/Corpus ); précédent : 000046; suivant : 000048Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
Auteurs : May-Britt Harmsen ; Silvia Azzarello-Burri ; M Mar García González ; Gabriele Gillessen-Kaesbach ; Peter Meinecke ; Dietmar Müller ; Anita Rauch ; Eva Rossier ; Eva Seemanova ; Christiane Spaich ; Bernhard Steiner ; Dagmar Wieczorek ; Martin Zenker ; Kerstin KutscheSource :
- European Journal of Human Genetics [ 1018-4813 ] ; 2009.
Abstract
Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the
Url:
DOI: 10.1038/ejhg.2009.40
PubMed: 19277062
PubMed Central: 2986635
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PMC:2986635Le document en format XML
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<author><name sortKey="Harmsen, May Britt" sort="Harmsen, May Britt" uniqKey="Harmsen M" first="May-Britt" last="Harmsen">May-Britt Harmsen</name>
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</nlm:aff>
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<author><name sortKey="Azzarello Burri, Silvia" sort="Azzarello Burri, Silvia" uniqKey="Azzarello Burri S" first="Silvia" last="Azzarello-Burri">Silvia Azzarello-Burri</name>
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<author><name sortKey="Garcia Gonzalez, M Mar" sort="Garcia Gonzalez, M Mar" uniqKey="Garcia Gonzalez M" first="M Mar" last="García González">M Mar García González</name>
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<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
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</nlm:aff>
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<author><name sortKey="Meinecke, Peter" sort="Meinecke, Peter" uniqKey="Meinecke P" first="Peter" last="Meinecke">Peter Meinecke</name>
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</nlm:aff>
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<author><name sortKey="Rossier, Eva" sort="Rossier, Eva" uniqKey="Rossier E" first="Eva" last="Rossier">Eva Rossier</name>
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</nlm:aff>
</affiliation>
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<author><name sortKey="Seemanova, Eva" sort="Seemanova, Eva" uniqKey="Seemanova E" first="Eva" last="Seemanova">Eva Seemanova</name>
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</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
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, Schwerzenbach,<country>Switzerland</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
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</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
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, Erlangen,<country>Germany</country>
</nlm:aff>
</affiliation>
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<author><name sortKey="Kutsche, Kerstin" sort="Kutsche, Kerstin" uniqKey="Kutsche K" first="Kerstin" last="Kutsche">Kerstin Kutsche</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap</title>
<author><name sortKey="Harmsen, May Britt" sort="Harmsen, May Britt" uniqKey="Harmsen M" first="May-Britt" last="Harmsen">May-Britt Harmsen</name>
<affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf</institution>
, Hamburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Azzarello Burri, Silvia" sort="Azzarello Burri, Silvia" uniqKey="Azzarello Burri S" first="Silvia" last="Azzarello-Burri">Silvia Azzarello-Burri</name>
<affiliation><nlm:aff id="aff2"><institution>Institut für Medizinische Genetik, Universität Zürich</institution>
, Schwerzenbach,<country>Switzerland</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Garcia Gonzalez, M Mar" sort="Garcia Gonzalez, M Mar" uniqKey="Garcia Gonzalez M" first="M Mar" last="García González">M Mar García González</name>
<affiliation><nlm:aff id="aff3"><institution>Servei de Pediatria, Hospital de Figueres</institution>
, Figueres,<country>Spain</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<affiliation><nlm:aff id="aff4"><institution>Institut für Humangenetik, Universität zu Lübeck</institution>
, Lübeck,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meinecke, Peter" sort="Meinecke, Peter" uniqKey="Meinecke P" first="Peter" last="Meinecke">Peter Meinecke</name>
<affiliation><nlm:aff id="aff5"><institution>Medizinische Genetik, Altonaer Kinderkrankenhaus</institution>
, Hamburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Muller, Dietmar" sort="Muller, Dietmar" uniqKey="Muller D" first="Dietmar" last="Müller">Dietmar Müller</name>
<affiliation><nlm:aff id="aff6"><institution>Institut für Medizinische Genetik, Klinikum Chemnitz</institution>
, Chemnitz,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name>
<affiliation><nlm:aff id="aff7"><institution>Humangenetisches Institut, Universitätsklinikum Erlangen</institution>
, Erlangen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Rossier, Eva" sort="Rossier, Eva" uniqKey="Rossier E" first="Eva" last="Rossier">Eva Rossier</name>
<affiliation><nlm:aff id="aff8"><institution>Medizinische Genetik, Universitätsklinikum Tübingen</institution>
, Tübingen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Seemanova, Eva" sort="Seemanova, Eva" uniqKey="Seemanova E" first="Eva" last="Seemanova">Eva Seemanova</name>
<affiliation><nlm:aff id="aff9"><institution>Department of Clinical Genetics, Institute of Biology and Medical Genetics, Charles University</institution>
, Prague,<country>Czech Republic</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Spaich, Christiane" sort="Spaich, Christiane" uniqKey="Spaich C" first="Christiane" last="Spaich">Christiane Spaich</name>
<affiliation><nlm:aff id="aff10"><institution>Institut für Klinische Genetik, Klinikum Stuttgart</institution>
, Stuttgart,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
<affiliation><nlm:aff id="aff2"><institution>Institut für Medizinische Genetik, Universität Zürich</institution>
, Schwerzenbach,<country>Switzerland</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen</institution>
, Essen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
<affiliation><nlm:aff id="aff7"><institution>Humangenetisches Institut, Universitätsklinikum Erlangen</institution>
, Erlangen,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kutsche, Kerstin" sort="Kutsche, Kerstin" uniqKey="Kutsche K" first="Kerstin" last="Kutsche">Kerstin Kutsche</name>
<affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf</institution>
, Hamburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2009">2009</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p>Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the <italic>PORCN</italic>
gene have been described to cause FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of <italic>HCCS</italic>
in the majority of cases. We performed DNA sequencing of <italic>PORCN</italic>
in 13 female patients with the clinical diagnosis of FDH as well as four female patients with MLS syndrome and no mutation in <italic>HCCS</italic>
. We identified <italic>PORCN</italic>
mutations in all female patients with FDH. Eleven patients seem to have constitutional <italic>PORCN</italic>
alterations in the heterozygous state and two individuals are mosaic for the heterozygous sequence change in <italic>PORCN</italic>
. No <italic>PORCN</italic>
mutation was identified in the MLS-affected patients, providing further evidence that FDH and MLS do not overlap genetically. X chromosome inactivation (XCI) analysis revealed a random or slightly skewed XCI pattern in leukocytes of individuals with intragenic <italic>PORCN</italic>
mutation suggesting that defective PORCN does not lead to selective growth disadvantage, at least in leukocytes. We conclude that the <italic>PORCN</italic>
mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">19277062</article-id>
<article-id pub-id-type="pmc">2986635</article-id>
<article-id pub-id-type="pii">ejhg200940</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2009.40</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap</article-title>
<alt-title alt-title-type="running"><italic>PORCN</italic>
mutations in patients with FDH</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Harmsen</surname>
<given-names>May-Britt</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Azzarello-Burri</surname>
<given-names>Silvia</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>García González</surname>
<given-names>M Mar</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gillessen-Kaesbach</surname>
<given-names>Gabriele</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meinecke</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Müller</surname>
<given-names>Dietmar</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rauch</surname>
<given-names>Anita</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rossier</surname>
<given-names>Eva</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Seemanova</surname>
<given-names>Eva</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spaich</surname>
<given-names>Christiane</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Steiner</surname>
<given-names>Bernhard</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wieczorek</surname>
<given-names>Dagmar</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zenker</surname>
<given-names>Martin</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kutsche</surname>
<given-names>Kerstin</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf</institution>
, Hamburg,<country>Germany</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Institut für Medizinische Genetik, Universität Zürich</institution>
, Schwerzenbach,<country>Switzerland</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Servei de Pediatria, Hospital de Figueres</institution>
, Figueres,<country>Spain</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Institut für Humangenetik, Universität zu Lübeck</institution>
, Lübeck,<country>Germany</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Medizinische Genetik, Altonaer Kinderkrankenhaus</institution>
, Hamburg,<country>Germany</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Institut für Medizinische Genetik, Klinikum Chemnitz</institution>
, Chemnitz,<country>Germany</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Humangenetisches Institut, Universitätsklinikum Erlangen</institution>
, Erlangen,<country>Germany</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Medizinische Genetik, Universitätsklinikum Tübingen</institution>
, Tübingen,<country>Germany</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Department of Clinical Genetics, Institute of Biology and Medical Genetics, Charles University</institution>
, Prague,<country>Czech Republic</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Institut für Klinische Genetik, Klinikum Stuttgart</institution>
, Stuttgart,<country>Germany</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>Institut für Humangenetik, Universitätsklinikum Essen</institution>
, Essen,<country>Germany</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf</institution>
, Campus Forschung, Martinistrasse 52, 20246 Hamburg, <country>Germany</country>
. Tel: +49 40 7410 54597; Fax: +49 40 7410 55138; E-mail: <email>kkutsche@uke.de</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>10</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="epub"><day>11</day>
<month>03</month>
<year>2009</year>
</pub-date>
<volume>17</volume>
<issue>10</issue>
<fpage>1207</fpage>
<lpage>1215</lpage>
<history><date date-type="received"><day>29</day>
<month>07</month>
<year>2008</year>
</date>
<date date-type="rev-recd"><day>09</day>
<month>02</month>
<year>2009</year>
</date>
<date date-type="accepted"><day>11</day>
<month>02</month>
<year>2009</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2009 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2009</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
<abstract><p>Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the <italic>PORCN</italic>
gene have been described to cause FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of <italic>HCCS</italic>
in the majority of cases. We performed DNA sequencing of <italic>PORCN</italic>
in 13 female patients with the clinical diagnosis of FDH as well as four female patients with MLS syndrome and no mutation in <italic>HCCS</italic>
. We identified <italic>PORCN</italic>
mutations in all female patients with FDH. Eleven patients seem to have constitutional <italic>PORCN</italic>
alterations in the heterozygous state and two individuals are mosaic for the heterozygous sequence change in <italic>PORCN</italic>
. No <italic>PORCN</italic>
mutation was identified in the MLS-affected patients, providing further evidence that FDH and MLS do not overlap genetically. X chromosome inactivation (XCI) analysis revealed a random or slightly skewed XCI pattern in leukocytes of individuals with intragenic <italic>PORCN</italic>
mutation suggesting that defective PORCN does not lead to selective growth disadvantage, at least in leukocytes. We conclude that the <italic>PORCN</italic>
mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.</p>
</abstract>
<kwd-group><kwd>FDH</kwd>
<kwd>male-lethal</kwd>
<kwd>MIDAS</kwd>
<kwd>mosaicism</kwd>
<kwd>X-chromosomal dominant</kwd>
<kwd>X-inactivation</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Corpus |type= RBID |clé= PMC:2986635 |texte= Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap }}
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HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:19277062" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
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