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The male phenotype in osteopathia striata congenita with cranial sclerosis

Identifieur interne : 006304 ( Main/Exploration ); précédent : 006303; suivant : 006305

The male phenotype in osteopathia striata congenita with cranial sclerosis

Auteurs : Sarah K. Holman [Nouvelle-Zélande] ; Phil Daniel [Nouvelle-Zélande] ; Zandra A. Jenkins [Nouvelle-Zélande] ; Rachel L. Herron [Nouvelle-Zélande] ; Tim Morgan [Nouvelle-Zélande] ; Ravi Savarirayan [Australie] ; C. W. Chow [Australie] ; Axel Bohring [Allemagne] ; Annette Mosel [Allemagne] ; Didier Lacombe [France] ; Bernhard Steiner [Suisse] ; Thomas Schmitt-Mechelke [Suisse] ; Barbara Schroter [Suisse] ; Annick Raas-Rothschild ; Sixto Garcia Mi Aur [Royaume-Uni] ; Mary Porteous [Royaume-Uni] ; Michael Parker [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Dagmar Tapon [Royaume-Uni] ; Valérie Cormier-Daire [France] ; Sahar Mansour [Royaume-Uni] ; Ruth Nash [Royaume-Uni] ; Laurence A. Bindoff [Norvège] ; Torunn Fiskerstrand [Norvège] ; Stephen P. Robertson [Nouvelle-Zélande]

Source :

RBID : ISTEX:2E37345174ABBAB03DC5A5544C9DAA0578331DEF

Descripteurs français

English descriptors

Abstract

Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre‐ and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage. © 2011 Wiley‐Liss, Inc.

Url:
DOI: 10.1002/ajmg.a.34178


Affiliations:


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


Le document en format XML

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<title level="j" type="main">American Journal of Medical Genetics Part A</title>
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<term>Germline</term>
<term>Germline mutations</term>
<term>Grant sponsor</term>
<term>Hearing loss</term>
<term>Hirschsprung disease</term>
<term>Holman</term>
<term>Hypertelorism</term>
<term>Keymolen</term>
<term>Konig</term>
<term>Long bones</term>
<term>Luciferase</term>
<term>Luerssen</term>
<term>Macrocephaly</term>
<term>Male</term>
<term>Male phenotype</term>
<term>Malformation</term>
<term>Medical genetics</term>
<term>Medical genetics part</term>
<term>Metaphyseal striations</term>
<term>Mild phenotype</term>
<term>Mutation</term>
<term>Nasal bridge</term>
<term>Nemaline rods</term>
<term>Nephrogenic</term>
<term>Neuromuscular anomalies</term>
<term>Nonsense codon suppression</term>
<term>Omphalocele</term>
<term>Online version</term>
<term>Oscs</term>
<term>Osteopathia</term>
<term>Osteopathia striata</term>
<term>Palate</term>
<term>Pellegrino</term>
<term>Perdu</term>
<term>Phalange</term>
<term>Phenotype</term>
<term>Phenotypic</term>
<term>Point mutations</term>
<term>Ptok</term>
<term>Rott</term>
<term>Sclerosis</term>
<term>Severe phenotype</term>
<term>Skeletal sclerosis</term>
<term>Skeleton</term>
<term>Skull</term>
<term>Striata</term>
<term>Striation</term>
<term>Survivable phenotype</term>
<term>Viot</term>
<term>Wilms</term>
<term>Wilms tumor</term>
<term>Wtxs1</term>
<term>Wtxs2</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Crâne</term>
<term>Dysplasie</term>
<term>Mâle</term>
<term>Os</term>
<term>Ostéopathie striée de Voorhoeve</term>
<term>Phénotype</term>
<term>Sclérose</term>
<term>Squelette</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en">
<term>American journal</term>
<term>Anomaly</term>
<term>Bilateral absence</term>
<term>Binding domain</term>
<term>Bossing</term>
<term>Bueno</term>
<term>Bula aplasia</term>
<term>Cleft</term>
<term>Cleft palate</term>
<term>Clin</term>
<term>Contracture</term>
<term>Cranial</term>
<term>Cranial sclerosis</term>
<term>Currarino</term>
<term>Deletion</term>
<term>Differential lyonization</term>
<term>Dysmorphism</term>
<term>Friedman</term>
<term>Frontal bossing</term>
<term>Fukuzawa</term>
<term>Genet</term>
<term>Genetics</term>
<term>Germline</term>
<term>Germline mutations</term>
<term>Grant sponsor</term>
<term>Hearing loss</term>
<term>Hirschsprung disease</term>
<term>Holman</term>
<term>Hypertelorism</term>
<term>Keymolen</term>
<term>Konig</term>
<term>Long bones</term>
<term>Luciferase</term>
<term>Luerssen</term>
<term>Macrocephaly</term>
<term>Male phenotype</term>
<term>Malformation</term>
<term>Medical genetics</term>
<term>Medical genetics part</term>
<term>Metaphyseal striations</term>
<term>Mild phenotype</term>
<term>Mutation</term>
<term>Nasal bridge</term>
<term>Nemaline rods</term>
<term>Nephrogenic</term>
<term>Neuromuscular anomalies</term>
<term>Nonsense codon suppression</term>
<term>Omphalocele</term>
<term>Online version</term>
<term>Oscs</term>
<term>Osteopathia</term>
<term>Osteopathia striata</term>
<term>Palate</term>
<term>Pellegrino</term>
<term>Perdu</term>
<term>Phalange</term>
<term>Phenotype</term>
<term>Phenotypic</term>
<term>Point mutations</term>
<term>Ptok</term>
<term>Rott</term>
<term>Sclerosis</term>
<term>Severe phenotype</term>
<term>Skeletal sclerosis</term>
<term>Striata</term>
<term>Striation</term>
<term>Survivable phenotype</term>
<term>Viot</term>
<term>Wilms</term>
<term>Wilms tumor</term>
<term>Wtxs1</term>
<term>Wtxs2</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre‐ and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage. © 2011 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Norvège</li>
<li>Nouvelle-Zélande</li>
<li>Royaume-Uni</li>
<li>Suisse</li>
</country>
<region>
<li>Angleterre</li>
<li>Aquitaine</li>
<li>Basse-Saxe</li>
<li>Canton de Zurich</li>
<li>District de Münster</li>
<li>Grand Londres</li>
<li>Nouvelle-Aquitaine</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Victoria (État)</li>
<li>Écosse</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Bordeaux</li>
<li>Londres</li>
<li>Melbourne</li>
<li>Münster</li>
<li>Osnabrück</li>
<li>Paris</li>
<li>Zurich</li>
<li>Édimbourg</li>
</settlement>
<orgName>
<li>Université de Bordeaux</li>
<li>Université de Londres</li>
<li>Université de Melbourne</li>
<li>Université de Zurich</li>
</orgName>
</list>
<tree>
<noCountry>
<name sortKey="Raas Othschild, Annick" sort="Raas Othschild, Annick" uniqKey="Raas Othschild A" first="Annick" last="Raas-Rothschild">Annick Raas-Rothschild</name>
</noCountry>
<country name="Nouvelle-Zélande">
<noRegion>
<name sortKey="Holman, Sarah K" sort="Holman, Sarah K" uniqKey="Holman S" first="Sarah K." last="Holman">Sarah K. Holman</name>
</noRegion>
<name sortKey="Daniel, Phil" sort="Daniel, Phil" uniqKey="Daniel P" first="Phil" last="Daniel">Phil Daniel</name>
<name sortKey="Herron, Rachel L" sort="Herron, Rachel L" uniqKey="Herron R" first="Rachel L." last="Herron">Rachel L. Herron</name>
<name sortKey="Jenkins, Zandra A" sort="Jenkins, Zandra A" uniqKey="Jenkins Z" first="Zandra A." last="Jenkins">Zandra A. Jenkins</name>
<name sortKey="Morgan, Tim" sort="Morgan, Tim" uniqKey="Morgan T" first="Tim" last="Morgan">Tim Morgan</name>
<name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name>
<name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name>
<name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name>
</country>
<country name="Australie">
<region name="Victoria (État)">
<name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</region>
<name sortKey="Chow, C W" sort="Chow, C W" uniqKey="Chow C" first="C. W." last="Chow">C. W. Chow</name>
</country>
<country name="Allemagne">
<region name="Rhénanie-du-Nord-Westphalie">
<name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name>
</region>
<name sortKey="Mosel, Annette" sort="Mosel, Annette" uniqKey="Mosel A" first="Annette" last="Mosel">Annette Mosel</name>
</country>
<country name="France">
<region name="Nouvelle-Aquitaine">
<name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
</region>
<name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
</country>
<country name="Suisse">
<region name="Canton de Zurich">
<name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name>
</region>
<name sortKey="Schmitt Echelke, Thomas" sort="Schmitt Echelke, Thomas" uniqKey="Schmitt Echelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name>
<name sortKey="Schroter, Barbara" sort="Schroter, Barbara" uniqKey="Schroter B" first="Barbara" last="Schroter">Barbara Schroter</name>
</country>
<country name="Royaume-Uni">
<region name="Écosse">
<name sortKey="Mi Aur, Sixto Garcia" sort="Mi Aur, Sixto Garcia" uniqKey="Mi Aur S" first="Sixto Garcia" last="Mi Aur">Sixto Garcia Mi Aur</name>
</region>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Nash, Ruth" sort="Nash, Ruth" uniqKey="Nash R" first="Ruth" last="Nash">Ruth Nash</name>
<name sortKey="Parker, Michael" sort="Parker, Michael" uniqKey="Parker M" first="Michael" last="Parker">Michael Parker</name>
<name sortKey="Porteous, Mary" sort="Porteous, Mary" uniqKey="Porteous M" first="Mary" last="Porteous">Mary Porteous</name>
<name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
<name sortKey="Tapon, Dagmar" sort="Tapon, Dagmar" uniqKey="Tapon D" first="Dagmar" last="Tapon">Dagmar Tapon</name>
</country>
<country name="Norvège">
<noRegion>
<name sortKey="Bindoff, Laurence A" sort="Bindoff, Laurence A" uniqKey="Bindoff L" first="Laurence A." last="Bindoff">Laurence A. Bindoff</name>
</noRegion>
<name sortKey="Fiskerstrand, Torunn" sort="Fiskerstrand, Torunn" uniqKey="Fiskerstrand T" first="Torunn" last="Fiskerstrand">Torunn Fiskerstrand</name>
</country>
</tree>
</affiliations>
</record>

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