AustralieFrV1, Main, Exploration, bibRecord, 007658

Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect

Identifieur interne : 007658 ( Main/Exploration ); précédent : 007657; suivant : 007659

Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect

Auteurs : Bram Perdu [Belgique] ; Fenna De Freitas [Belgique] ; Suzanne Gm Frints [Pays-Bas] ; Meyke Schouten [Pays-Bas] ; Connie Schrander-Stumpel [Pays-Bas] ; Mafalda Barbosa [Portugal] ; Jorge Pinto-Basto [Portugal] ; Margarida Reis-Lima [Portugal] ; Marie-Christine De Vernejoul [France] ; Kristin Becker [Royaume-Uni] ; Marie-Louise Freckmann [Australie] ; Kathlijn Keymolen [Belgique] ; Eric Haan [Australie] ; Ravi Savarirayan [Australie] ; Rainer Koenig [Allemagne] ; Bernhard Zabel [Allemagne] ; Filip M. Vanhoenacker [Belgique] ; Wim Van Hul [Belgique]

Source :

Journal of bone and mineral research : (Print) [ 0884-0431 ] ; 2010.

RBID : Pascal:10-0217949

Descripteurs français

Pascal (Inist)
- Ostéopathie striée de Voorhoeve, Sclérose, Gène, Génotype, Phénotype, Mammalia, Système ostéoarticulaire.

English descriptors

KwdEn :
- Gene, Genotype, Mammalia, Osteoarticular system, Osteopathia striata, Phenotype, Sclerosis.

Abstract

Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition marked by linear striations mainly affecting the metaphyseal region of the long bones and pelvis in combination with cranial sclerosis. Recently, the disease-causing gene was identified as the WTX gene (FAM1238), an inhibitor of WNT signaling. A correlation was suggested between the position of the mutation and male lethality. We performed genotype and phenotype studies using 18 patients from eight families with possible WTX gene defects and expanded the clinical spectrum of the affected females. All investigated families diagnosed with OSCS had WTX gene defects. One family had a WTX gene deletion; three of four point mutations were novel. The earlier reported WTX c.1072C>T was detected in four sporadic patients and appears to be a hotspot for mutations. Based on the nature of the mutation present in a surviving male patient, our data do not support the hypothesis raised by Jenkins et al. (2009) regarding a genotype-phenotype correlation for male lethality. The finding of a gene involved in WNT signaling as the cause of this sclerosing bone phenotype is not unexpected, but further functional studies are needed to explain the specific features. The WTX gene is mutated in different types of cancer, and it remains to be explained why osteopathia striata patients appear not to have an increased risk of cancer.

Affiliations:

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

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect</title>
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<author><name sortKey="Barbosa, Mafalda" sort="Barbosa, Mafalda" uniqKey="Barbosa M" first="Mafalda" last="Barbosa">Mafalda Barbosa</name>
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<author><name sortKey="Reis Lima, Margarida" sort="Reis Lima, Margarida" uniqKey="Reis Lima M" first="Margarida" last="Reis-Lima">Margarida Reis-Lima</name>
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<s2>4000-404 Porto</s2>
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<author><name sortKey="De Vernejoul, Marie Christine" sort="De Vernejoul, Marie Christine" uniqKey="De Vernejoul M" first="Marie-Christine" last="De Vernejoul">Marie-Christine De Vernejoul</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>INSERM U606 and University of Paris 7, Rheumatology Department, Hospital Lariboisière, Assistance Publique Hôpitaux de Paris</s1>
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<s3>FRA</s3>
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</placeName>
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<author><name sortKey="Becker, Kristin" sort="Becker, Kristin" uniqKey="Becker K" first="Kristin" last="Becker">Kristin Becker</name>
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<s2>LL18 5UJ Denbighshire</s2>
<s3>GBR</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>LL18 5UJ Denbighshire</wicri:noRegion>
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<author><name sortKey="Freckmann, Marie Louise" sort="Freckmann, Marie Louise" uniqKey="Freckmann M" first="Marie-Louise" last="Freckmann">Marie-Louise Freckmann</name>
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<s3>AUS</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Keymolen, Kathlijn" sort="Keymolen, Kathlijn" uniqKey="Keymolen K" first="Kathlijn" last="Keymolen">Kathlijn Keymolen</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Medische Genetica UZ Brussels, Vrije Universiteit Brussels</s1>
<s2>1000 Brussels</s2>
<s3>BEL</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>SA Pathology, Women's and Children's Hospital Site, North Adelaide SA 5006 and Department of Paediatrics, University of Adelaide</s1>
<s2>Adelaide SA 5000</s2>
<s3>AUS</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Genetic Health Services Victoria, Royal Children's Hospital Clinical Genetics Units</s1>
<s2>3052 Parkville</s2>
<s3>AUS</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>3052 Parkville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Institute of Human Genetics Frankfurt, Children's Hospital at 55131 Mainz</s1>
<s2>97080 Würzburg</s2>
<s3>DEU</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Basse-Franconie</region>
<settlement type="city">Wurtzbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name>
<affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Centre for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg</s1>
<s2>79106 Freiburg</s2>
<s3>DEU</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Fribourg-en-Brisgau</region>
<settlement type="city">Fribourg-en-Brisgau</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vanhoenacker, Filip M" sort="Vanhoenacker, Filip M" uniqKey="Vanhoenacker F" first="Filip M." last="Vanhoenacker">Filip M. Vanhoenacker</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Radiology, University Hospital of Antwerp</s1>
<s2>2610 Antwerp</s2>
<s3>BEL</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>2610 Antwerp</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Hul, Wim" sort="Van Hul, Wim" uniqKey="Van Hul W" first="Wim" last="Van Hul">Wim Van Hul</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University and University Hospital of Antwerp</s1>
<s2>2610 Antwerp</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>2610 Antwerp</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Journal of bone and mineral research : (Print)</title>
<title level="j" type="abbreviated">J. bone miner. res. : (Print)</title>
<idno type="ISSN">0884-0431</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Journal of bone and mineral research : (Print)</title>
<title level="j" type="abbreviated">J. bone miner. res. : (Print)</title>
<idno type="ISSN">0884-0431</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene</term>
<term>Genotype</term>
<term>Mammalia</term>
<term>Osteoarticular system</term>
<term>Osteopathia striata</term>
<term>Phenotype</term>
<term>Sclerosis</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Ostéopathie striée de Voorhoeve</term>
<term>Sclérose</term>
<term>Gène</term>
<term>Génotype</term>
<term>Phénotype</term>
<term>Mammalia</term>
<term>Système ostéoarticulaire</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition marked by linear striations mainly affecting the metaphyseal region of the long bones and pelvis in combination with cranial sclerosis. Recently, the disease-causing gene was identified as the WTX gene (FAM1238), an inhibitor of WNT signaling. A correlation was suggested between the position of the mutation and male lethality. We performed genotype and phenotype studies using 18 patients from eight families with possible WTX gene defects and expanded the clinical spectrum of the affected females. All investigated families diagnosed with OSCS had WTX gene defects. One family had a WTX gene deletion; three of four point mutations were novel. The earlier reported WTX c.1072C>T was detected in four sporadic patients and appears to be a hotspot for mutations. Based on the nature of the mutation present in a surviving male patient, our data do not support the hypothesis raised by Jenkins et al. (2009) regarding a genotype-phenotype correlation for male lethality. The finding of a gene involved in WNT signaling as the cause of this sclerosing bone phenotype is not unexpected, but further functional studies are needed to explain the specific features. The WTX gene is mutated in different types of cancer, and it remains to be explained why osteopathia striata patients appear not to have an increased risk of cancer.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Portugal</li>
<li>Royaume-Uni</li>
</country>
<region><li>Bade-Wurtemberg</li>
<li>Bavière</li>
<li>District de Basse-Franconie</li>
<li>District de Fribourg-en-Brisgau</li>
<li>Vienne (Autriche)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Fribourg-en-Brisgau</li>
<li>Paris</li>
<li>Vienne (Autriche)</li>
<li>Wurtzbourg</li>
</settlement>
</list>
<tree><country name="Belgique"><noRegion><name sortKey="Perdu, Bram" sort="Perdu, Bram" uniqKey="Perdu B" first="Bram" last="Perdu">Bram Perdu</name>
</noRegion>
<name sortKey="De Freitas, Fenna" sort="De Freitas, Fenna" uniqKey="De Freitas F" first="Fenna" last="De Freitas">Fenna De Freitas</name>
<name sortKey="Keymolen, Kathlijn" sort="Keymolen, Kathlijn" uniqKey="Keymolen K" first="Kathlijn" last="Keymolen">Kathlijn Keymolen</name>
<name sortKey="Van Hul, Wim" sort="Van Hul, Wim" uniqKey="Van Hul W" first="Wim" last="Van Hul">Wim Van Hul</name>
<name sortKey="Vanhoenacker, Filip M" sort="Vanhoenacker, Filip M" uniqKey="Vanhoenacker F" first="Filip M." last="Vanhoenacker">Filip M. Vanhoenacker</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Frints, Suzanne Gm" sort="Frints, Suzanne Gm" uniqKey="Frints S" first="Suzanne Gm" last="Frints">Suzanne Gm Frints</name>
</noRegion>
<name sortKey="Frints, Suzanne Gm" sort="Frints, Suzanne Gm" uniqKey="Frints S" first="Suzanne Gm" last="Frints">Suzanne Gm Frints</name>
<name sortKey="Schouten, Meyke" sort="Schouten, Meyke" uniqKey="Schouten M" first="Meyke" last="Schouten">Meyke Schouten</name>
<name sortKey="Schrander Stumpel, Connie" sort="Schrander Stumpel, Connie" uniqKey="Schrander Stumpel C" first="Connie" last="Schrander-Stumpel">Connie Schrander-Stumpel</name>
<name sortKey="Schrander Stumpel, Connie" sort="Schrander Stumpel, Connie" uniqKey="Schrander Stumpel C" first="Connie" last="Schrander-Stumpel">Connie Schrander-Stumpel</name>
</country>
<country name="Portugal"><noRegion><name sortKey="Barbosa, Mafalda" sort="Barbosa, Mafalda" uniqKey="Barbosa M" first="Mafalda" last="Barbosa">Mafalda Barbosa</name>
</noRegion>
<name sortKey="Pinto Basto, Jorge" sort="Pinto Basto, Jorge" uniqKey="Pinto Basto J" first="Jorge" last="Pinto-Basto">Jorge Pinto-Basto</name>
<name sortKey="Reis Lima, Margarida" sort="Reis Lima, Margarida" uniqKey="Reis Lima M" first="Margarida" last="Reis-Lima">Margarida Reis-Lima</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="De Vernejoul, Marie Christine" sort="De Vernejoul, Marie Christine" uniqKey="De Vernejoul M" first="Marie-Christine" last="De Vernejoul">Marie-Christine De Vernejoul</name>
</region>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Becker, Kristin" sort="Becker, Kristin" uniqKey="Becker K" first="Kristin" last="Becker">Kristin Becker</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Freckmann, Marie Louise" sort="Freckmann, Marie Louise" uniqKey="Freckmann M" first="Marie-Louise" last="Freckmann">Marie-Louise Freckmann</name>
</noRegion>
<name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name>
<name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name>
</region>
<name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name>
</country>
</tree>
</affiliations>
</record>

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Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect

Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect

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