Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Identifieur interne : 002E39 ( PascalFrancis/Corpus ); précédent : 002E38; suivant : 002E40Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Auteurs : Zandra A. Jenkins ; Margriet Van Kogelenberg ; Tim Morgan ; Aaron Jeffs ; Ryuji Fukuzawa ; Esther Pearl ; Christina Thaller ; Anne V. Hing ; Mary E. Porteous ; Sixto Garcia-Minaur ; Axel Bohring ; Didier Lacombe ; Fiona Stewart ; Torunn Fiskerstrand ; Laurence Bindoff ; Siren Berland ; Lesley C. Ades ; Michel Tchan ; Albert David ; Louise C. Wilson ; Raoul C. M. Hennekam ; Dian Donnai ; Sahar Mansour ; Valérie Cormier-Daire ; Stephen P. RobertsonSource :
- Nature genetics [ 1061-4036 ] ; 2009.
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English descriptors
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Abstract
Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis1. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling2, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)3. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor4-6. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.
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Format Inist (serveur)
| NO : | PASCAL 09-0199705 INIST |
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| ET : | Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis |
| AU : | JENKINS (Zandra A.); VAN KOGELENBERG (Margriet); MORGAN (Tim); JEFFS (Aaron); FUKUZAWA (Ryuji); PEARL (Esther); THALLER (Christina); HING (Anne V.); PORTEOUS (Mary E.); GARCIA-MINAUR (Sixto); BOHRING (Axel); LACOMBE (Didier); STEWART (Fiona); FISKERSTRAND (Torunn); BINDOFF (Laurence); BERLAND (Siren); ADES (Lesley C.); TCHAN (Michel); DAVID (Albert); WILSON (Louise C.); HENNEKAM (Raoul C. M.); DONNAI (Dian); MANSOUR (Sahar); CORMIER-DAIRE (Valérie); ROBERTSON (Stephen P.) |
| AF : | Department of Paediatrics, Dunedin School of Medicine, Otago University/Dunedin 9054/Nouvelle-Zélande (1 aut., 2 aut., 3 aut., 25 aut.); Department of Pathology, Dunedin School of Medicine, Otago University/Dunedin 9054/Nouvelle-Zélande (4 aut.); Cancer Genetics Laboratory, Department of Biochemistry, Otago University/Dunedin 9054/Nouvelle-Zélande (5 aut.); Department of Zoology, Otago University/Dunedin 9054/Nouvelle-Zélande (6 aut.); Department of Biochemistry and Molecular Biology, Baylor College of Medicine/Houston, Texas 77030/Etats-Unis (7 aut.); Division of Craniofacial Medicine, Department of Pediatrics, University of Washington School of Medicine/Seattle, Washington 98195/Etats-Unis (8 aut.); South East Scotland Genetic Service, Western General Hospital/Edinburgh EH4 2XU/Royaume-Uni (9 aut., 10 aut.); Institut für Humangenetik, Westfälische Wilhelms-Universitat/Münster 48149/Allemagne (11 aut.); Génétique Medicale, CHU de Bordeaux, Universite de Bordeaux/Bordeaux 33800/France (12 aut.); Department of Medical Genetics, Belfast City Hospital/Belfast BT9 7AB, Northern Ireland/Royaume-Uni (13 aut.); Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital/Bergen 5021/Norvège (14 aut., 16 aut.); Institute of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital/Bergen 5021/Norvège (15 aut.); Department of Clinical Genetics, Children's Hospital at Westmead/Australie (17 aut., 18 aut.); Discipline of Paediatrics and Child Health, University of Sydney/Sydney NSW 2101/Australie (17 aut.); Clinical Genetics Department, Nantes University Hospital/Nantes 44093/France (19 aut.); Clinical and Molecular Genetics Unit, Institute for Child Health/London WC1N 3JH/Royaume-Uni (20 aut., 21 aut.); Department of Clinical Genetics, St Mary's Hospital/Manchester M13 OJH/Royaume-Uni (22 aut.); South West Thames Regional Genetics Unit, St George's Hospital/London SW17 ORE/Royaume-Uni (23 aut.); Département de Génétique, Hôpital Necker-Enfants Malades/Paris 75743/France (24 aut.) |
| DT : | Publication en série; Correspondance, lettre; Niveau analytique |
| SO : | Nature genetics; ISSN 1061-4036; Coden NGENEC; Royaume-Uni; Da. 2009; Vol. 41; No. 1; Pp. 95-100; Bibl. 30 ref. |
| LA : | Anglais |
| EA : | Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis1. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling2, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)3. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor4-6. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis. |
| CC : | 002A07; 002A04H04 |
| FD : | Lignée germinale; Mutation; Carcinogenèse; Dysplasie |
| ED : | Germ line; Mutation; Carcinogenesis; Dysplasia |
| SD : | Línea germinal; Mutación; Carcinogénesis; Displasia |
| LO : | INIST-22883.354000186810160120 |
| ID : | 09-0199705 |
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Ades</name><affiliation><inist:fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1><s3>AUS</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="14"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1><s2>Sydney NSW 2101</s2><s3>AUS</s3><sZ>17 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Tchan, Michel" sort="Tchan, Michel" uniqKey="Tchan M" first="Michel" last="Tchan">Michel Tchan</name><affiliation><inist:fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1><s3>AUS</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation><inist:fA14 i1="15"><s1>Clinical Genetics Department, Nantes University Hospital</s1><s2>Nantes 44093</s2><s3>FRA</s3><sZ>19 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wilson, Louise C" sort="Wilson, Louise C" uniqKey="Wilson L" first="Louise C." last="Wilson">Louise C. Wilson</name><affiliation><inist:fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1><s2>London WC1N 3JH</s2><s3>GBR</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation><inist:fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1><s2>London WC1N 3JH</s2><s3>GBR</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Donnai, Dian" sort="Donnai, Dian" uniqKey="Donnai D" first="Dian" last="Donnai">Dian Donnai</name><affiliation><inist:fA14 i1="17"><s1>Department of Clinical Genetics, St Mary's Hospital</s1><s2>Manchester M13 OJH</s2><s3>GBR</s3><sZ>22 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><inist:fA14 i1="18"><s1>South West Thames Regional Genetics Unit, St George's Hospital</s1><s2>London SW17 ORE</s2><s3>GBR</s3><sZ>23 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><inist:fA14 i1="19"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1><s2>Paris 75743</s2><s3>FRA</s3><sZ>24 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>25 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0199705</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0199705 INIST</idno><idno type="RBID">Pascal:09-0199705</idno><idno type="wicri:Area/PascalFrancis/Corpus">002E39</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis</title><author><name sortKey="Jenkins, Zandra A" sort="Jenkins, Zandra A" uniqKey="Jenkins Z" first="Zandra A." last="Jenkins">Zandra A. Jenkins</name><affiliation><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>25 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name><affiliation><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>25 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Morgan, Tim" sort="Morgan, Tim" uniqKey="Morgan T" first="Tim" last="Morgan">Tim Morgan</name><affiliation><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>25 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Jeffs, Aaron" sort="Jeffs, Aaron" uniqKey="Jeffs A" first="Aaron" last="Jeffs">Aaron Jeffs</name><affiliation><inist:fA14 i1="02"><s1>Department of Pathology, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Fukuzawa, Ryuji" sort="Fukuzawa, Ryuji" uniqKey="Fukuzawa R" first="Ryuji" last="Fukuzawa">Ryuji Fukuzawa</name><affiliation><inist:fA14 i1="03"><s1>Cancer Genetics Laboratory, Department of Biochemistry, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>5 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Pearl, Esther" sort="Pearl, Esther" uniqKey="Pearl E" first="Esther" last="Pearl">Esther Pearl</name><affiliation><inist:fA14 i1="04"><s1>Department of Zoology, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>6 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Thaller, Christina" sort="Thaller, Christina" uniqKey="Thaller C" first="Christina" last="Thaller">Christina Thaller</name><affiliation><inist:fA14 i1="05"><s1>Department of Biochemistry and Molecular Biology, Baylor College of Medicine</s1><s2>Houston, Texas 77030</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hing, Anne V" sort="Hing, Anne V" uniqKey="Hing A" first="Anne V." last="Hing">Anne V. Hing</name><affiliation><inist:fA14 i1="06"><s1>Division of Craniofacial Medicine, Department of Pediatrics, University of Washington School of Medicine</s1><s2>Seattle, Washington 98195</s2><s3>USA</s3><sZ>8 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Porteous, Mary E" sort="Porteous, Mary E" uniqKey="Porteous M" first="Mary E." last="Porteous">Mary E. Porteous</name><affiliation><inist:fA14 i1="07"><s1>South East Scotland Genetic Service, Western General Hospital</s1><s2>Edinburgh EH4 2XU</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Garcia Minaur, Sixto" sort="Garcia Minaur, Sixto" uniqKey="Garcia Minaur S" first="Sixto" last="Garcia-Minaur">Sixto Garcia-Minaur</name><affiliation><inist:fA14 i1="07"><s1>South East Scotland Genetic Service, Western General Hospital</s1><s2>Edinburgh EH4 2XU</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation><inist:fA14 i1="08"><s1>Institut für Humangenetik, Westfälische Wilhelms-Universitat</s1><s2>Münster 48149</s2><s3>DEU</s3><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><inist:fA14 i1="09"><s1>Génétique Medicale, CHU de Bordeaux, Universite de Bordeaux</s1><s2>Bordeaux 33800</s2><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name><affiliation><inist:fA14 i1="10"><s1>Department of Medical Genetics, Belfast City Hospital</s1><s2>Belfast BT9 7AB, Northern Ireland</s2><s3>GBR</s3><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Fiskerstrand, Torunn" sort="Fiskerstrand, Torunn" uniqKey="Fiskerstrand T" first="Torunn" last="Fiskerstrand">Torunn Fiskerstrand</name><affiliation><inist:fA14 i1="11"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital</s1><s2>Bergen 5021</s2><s3>NOR</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bindoff, Laurence" sort="Bindoff, Laurence" uniqKey="Bindoff L" first="Laurence" last="Bindoff">Laurence Bindoff</name><affiliation><inist:fA14 i1="12"><s1>Institute of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital</s1><s2>Bergen 5021</s2><s3>NOR</s3><sZ>15 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name><affiliation><inist:fA14 i1="11"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital</s1><s2>Bergen 5021</s2><s3>NOR</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ades, Lesley C" sort="Ades, Lesley C" uniqKey="Ades L" first="Lesley C." last="Ades">Lesley C. Ades</name><affiliation><inist:fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1><s3>AUS</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="14"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1><s2>Sydney NSW 2101</s2><s3>AUS</s3><sZ>17 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Tchan, Michel" sort="Tchan, Michel" uniqKey="Tchan M" first="Michel" last="Tchan">Michel Tchan</name><affiliation><inist:fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1><s3>AUS</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation><inist:fA14 i1="15"><s1>Clinical Genetics Department, Nantes University Hospital</s1><s2>Nantes 44093</s2><s3>FRA</s3><sZ>19 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wilson, Louise C" sort="Wilson, Louise C" uniqKey="Wilson L" first="Louise C." last="Wilson">Louise C. Wilson</name><affiliation><inist:fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1><s2>London WC1N 3JH</s2><s3>GBR</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation><inist:fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1><s2>London WC1N 3JH</s2><s3>GBR</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Donnai, Dian" sort="Donnai, Dian" uniqKey="Donnai D" first="Dian" last="Donnai">Dian Donnai</name><affiliation><inist:fA14 i1="17"><s1>Department of Clinical Genetics, St Mary's Hospital</s1><s2>Manchester M13 OJH</s2><s3>GBR</s3><sZ>22 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><inist:fA14 i1="18"><s1>South West Thames Regional Genetics Unit, St George's Hospital</s1><s2>London SW17 ORE</s2><s3>GBR</s3><sZ>23 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><inist:fA14 i1="19"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1><s2>Paris 75743</s2><s3>FRA</s3><sZ>24 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>25 aut.</sZ></inist:fA14></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="2009">2009</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>Carcinogenesis</term><term>Dysplasia</term><term>Germ line</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Lignée germinale</term><term>Mutation</term><term>Carcinogenèse</term><term>Dysplasie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis<sup>1</sup>. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling<sup>2</sup>, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)<sup>3</sup>. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor<sup>4-6</sup>. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1061-4036</s0></fA01><fA02 i1="01"><s0>NGENEC</s0></fA02><fA03 i2="1"><s0>Nat. genet.</s0></fA03><fA05><s2>41</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis</s1></fA08><fA11 i1="01" i2="1"><s1>JENKINS (Zandra A.)</s1></fA11><fA11 i1="02" i2="1"><s1>VAN KOGELENBERG (Margriet)</s1></fA11><fA11 i1="03" i2="1"><s1>MORGAN (Tim)</s1></fA11><fA11 i1="04" i2="1"><s1>JEFFS (Aaron)</s1></fA11><fA11 i1="05" i2="1"><s1>FUKUZAWA (Ryuji)</s1></fA11><fA11 i1="06" i2="1"><s1>PEARL (Esther)</s1></fA11><fA11 i1="07" i2="1"><s1>THALLER (Christina)</s1></fA11><fA11 i1="08" i2="1"><s1>HING (Anne V.)</s1></fA11><fA11 i1="09" i2="1"><s1>PORTEOUS (Mary E.)</s1></fA11><fA11 i1="10" i2="1"><s1>GARCIA-MINAUR (Sixto)</s1></fA11><fA11 i1="11" i2="1"><s1>BOHRING (Axel)</s1></fA11><fA11 i1="12" i2="1"><s1>LACOMBE (Didier)</s1></fA11><fA11 i1="13" i2="1"><s1>STEWART (Fiona)</s1></fA11><fA11 i1="14" i2="1"><s1>FISKERSTRAND (Torunn)</s1></fA11><fA11 i1="15" i2="1"><s1>BINDOFF (Laurence)</s1></fA11><fA11 i1="16" i2="1"><s1>BERLAND (Siren)</s1></fA11><fA11 i1="17" i2="1"><s1>ADES (Lesley C.)</s1></fA11><fA11 i1="18" i2="1"><s1>TCHAN (Michel)</s1></fA11><fA11 i1="19" i2="1"><s1>DAVID (Albert)</s1></fA11><fA11 i1="20" i2="1"><s1>WILSON (Louise C.)</s1></fA11><fA11 i1="21" i2="1"><s1>HENNEKAM (Raoul C. M.)</s1></fA11><fA11 i1="22" i2="1"><s1>DONNAI (Dian)</s1></fA11><fA11 i1="23" i2="1"><s1>MANSOUR (Sahar)</s1></fA11><fA11 i1="24" i2="1"><s1>CORMIER-DAIRE (Valérie)</s1></fA11><fA11 i1="25" i2="1"><s1>ROBERTSON (Stephen P.)</s1></fA11><fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>25 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Pathology, Dunedin School of Medicine, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>4 aut.</sZ></fA14><fA14 i1="03"><s1>Cancer Genetics Laboratory, Department of Biochemistry, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>5 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Zoology, Otago University</s1><s2>Dunedin 9054</s2><s3>NZL</s3><sZ>6 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Biochemistry and Molecular Biology, Baylor College of Medicine</s1><s2>Houston, Texas 77030</s2><s3>USA</s3><sZ>7 aut.</sZ></fA14><fA14 i1="06"><s1>Division of Craniofacial Medicine, Department of Pediatrics, University of Washington School of Medicine</s1><s2>Seattle, Washington 98195</s2><s3>USA</s3><sZ>8 aut.</sZ></fA14><fA14 i1="07"><s1>South East Scotland Genetic Service, Western General Hospital</s1><s2>Edinburgh EH4 2XU</s2><s3>GBR</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="08"><s1>Institut für Humangenetik, Westfälische Wilhelms-Universitat</s1><s2>Münster 48149</s2><s3>DEU</s3><sZ>11 aut.</sZ></fA14><fA14 i1="09"><s1>Génétique Medicale, CHU de Bordeaux, Universite de Bordeaux</s1><s2>Bordeaux 33800</s2><s3>FRA</s3><sZ>12 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Medical Genetics, Belfast City Hospital</s1><s2>Belfast BT9 7AB, Northern Ireland</s2><s3>GBR</s3><sZ>13 aut.</sZ></fA14><fA14 i1="11"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital</s1><s2>Bergen 5021</s2><s3>NOR</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="12"><s1>Institute of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital</s1><s2>Bergen 5021</s2><s3>NOR</s3><sZ>15 aut.</sZ></fA14><fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1><s3>AUS</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="14"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1><s2>Sydney NSW 2101</s2><s3>AUS</s3><sZ>17 aut.</sZ></fA14><fA14 i1="15"><s1>Clinical Genetics Department, Nantes University Hospital</s1><s2>Nantes 44093</s2><s3>FRA</s3><sZ>19 aut.</sZ></fA14><fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1><s2>London WC1N 3JH</s2><s3>GBR</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></fA14><fA14 i1="17"><s1>Department of Clinical Genetics, St Mary's Hospital</s1><s2>Manchester M13 OJH</s2><s3>GBR</s3><sZ>22 aut.</sZ></fA14><fA14 i1="18"><s1>South West Thames Regional Genetics Unit, St George's Hospital</s1><s2>London SW17 ORE</s2><s3>GBR</s3><sZ>23 aut.</sZ></fA14><fA14 i1="19"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1><s2>Paris 75743</s2><s3>FRA</s3><sZ>24 aut.</sZ></fA14><fA20><s1>95-100</s1></fA20><fA21><s1>2009</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>22883</s2><s5>354000186810160120</s5></fA43><fA44><s0>0000</s0><s1>© 2009 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>30 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>09-0199705</s0></fA47><fA60><s1>P</s1><s3>CR</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Nature genetics</s0></fA64><fA66 i1="01"><s0>GBR</s0></fA66><fC01 i1="01" l="ENG"><s0>Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis<sup>1</sup>. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling<sup>2</sup>, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)<sup>3</sup>. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor<sup>4-6</sup>. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.</s0></fC01><fC02 i1="01" i2="X"><s0>002A07</s0></fC02><fC02 i1="02" i2="X"><s0>002A04H04</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Lignée germinale</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Germ line</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Línea germinal</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Mutation</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Mutation</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Mutación</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Carcinogenèse</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Carcinogenesis</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Carcinogénesis</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Dysplasie</s0><s5>14</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Dysplasia</s0><s5>14</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Displasia</s0><s5>14</s5></fC03><fN21><s1>145</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 09-0199705 INIST</NO><ET>Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis</ET><AU>JENKINS (Zandra A.); VAN KOGELENBERG (Margriet); MORGAN (Tim); JEFFS (Aaron); FUKUZAWA (Ryuji); PEARL (Esther); THALLER (Christina); HING (Anne V.); PORTEOUS (Mary E.); GARCIA-MINAUR (Sixto); BOHRING (Axel); LACOMBE (Didier); STEWART (Fiona); FISKERSTRAND (Torunn); BINDOFF (Laurence); BERLAND (Siren); ADES (Lesley C.); TCHAN (Michel); DAVID (Albert); WILSON (Louise C.); HENNEKAM (Raoul C. M.); DONNAI (Dian); MANSOUR (Sahar); CORMIER-DAIRE (Valérie); ROBERTSON (Stephen P.)</AU><AF>Department of Paediatrics, Dunedin School of Medicine, Otago University/Dunedin 9054/Nouvelle-Zélande (1 aut., 2 aut., 3 aut., 25 aut.); Department of Pathology, Dunedin School of Medicine, Otago University/Dunedin 9054/Nouvelle-Zélande (4 aut.); Cancer Genetics Laboratory, Department of Biochemistry, Otago University/Dunedin 9054/Nouvelle-Zélande (5 aut.); Department of Zoology, Otago University/Dunedin 9054/Nouvelle-Zélande (6 aut.); Department of Biochemistry and Molecular Biology, Baylor College of Medicine/Houston, Texas 77030/Etats-Unis (7 aut.); Division of Craniofacial Medicine, Department of Pediatrics, University of Washington School of Medicine/Seattle, Washington 98195/Etats-Unis (8 aut.); South East Scotland Genetic Service, Western General Hospital/Edinburgh EH4 2XU/Royaume-Uni (9 aut., 10 aut.); Institut für Humangenetik, Westfälische Wilhelms-Universitat/Münster 48149/Allemagne (11 aut.); Génétique Medicale, CHU de Bordeaux, Universite de Bordeaux/Bordeaux 33800/France (12 aut.); Department of Medical Genetics, Belfast City Hospital/Belfast BT9 7AB, Northern Ireland/Royaume-Uni (13 aut.); Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital/Bergen 5021/Norvège (14 aut., 16 aut.); Institute of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital/Bergen 5021/Norvège (15 aut.); Department of Clinical Genetics, Children's Hospital at Westmead/Australie (17 aut., 18 aut.); Discipline of Paediatrics and Child Health, University of Sydney/Sydney NSW 2101/Australie (17 aut.); Clinical Genetics Department, Nantes University Hospital/Nantes 44093/France (19 aut.); Clinical and Molecular Genetics Unit, Institute for Child Health/London WC1N 3JH/Royaume-Uni (20 aut., 21 aut.); Department of Clinical Genetics, St Mary's Hospital/Manchester M13 OJH/Royaume-Uni (22 aut.); South West Thames Regional Genetics Unit, St George's Hospital/London SW17 ORE/Royaume-Uni (23 aut.); Département de Génétique, Hôpital Necker-Enfants Malades/Paris 75743/France (24 aut.)</AF><DT>Publication en série; Correspondance, lettre; Niveau analytique</DT><SO>Nature genetics; ISSN 1061-4036; Coden NGENEC; Royaume-Uni; Da. 2009; Vol. 41; No. 1; Pp. 95-100; Bibl. 30 ref.</SO><LA>Anglais</LA><EA>Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis<sup>1</sup>. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling<sup>2</sup>, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)<sup>3</sup>. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor<sup>4-6</sup>. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.</EA><CC>002A07; 002A04H04</CC><FD>Lignée germinale; Mutation; Carcinogenèse; Dysplasie</FD><ED>Germ line; Mutation; Carcinogenesis; Dysplasia</ED><SD>Línea germinal; Mutación; Carcinogénesis; Displasia</SD><LO>INIST-22883.354000186810160120</LO><ID>09-0199705</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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