Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Identifieur interne : 003818 ( Main/Exploration ); précédent : 003817; suivant : 003819Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Auteurs : M. Willems [France] ; D. Geneviève [France] ; G. Borck [France] ; C. Baumann [France] ; G. Baujat [France] ; E. Bieth [France] ; P. Edery [France] ; C. Farra [Liban] ; M. Gerard [France] ; D. Héron [France] ; B. Leheup [France] ; M. Le Merrer [France] ; S. Lyonnet [France] ; D. Martin-Coignard [France] ; M. Mathieu [France] ; C. Thauvin-Robinet [France] ; A. Verloes [France] ; L. Colleaux [France] ; A. Munnich [France] ; V. Cormier-Daire [France]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2010-12.
English descriptors
- Teeft :
- Anomaly, Carpal, Carpal fusion, Clinical features, Consanguineous families, Coxa, Coxa vara, Distinct mutations, Exon, Facial features, Genet, Genetics, Growth retardation, Lait spots, Microcephalic, Microcephalic osteodysplastic, Microcephaly, Mopd, Mopdii, Mopdii patients, Mutation, Osteodysplastic, Pcnt, Pcnt mutation, Pcnt mutations, Pericentrin, Pericentrin gene, Premature termination, Sckl, Sckl patients, Seckel, Seckel syndrome, Short femoral neck, Short stature, Subglottic stenosis, Syndrome, Thick diaphyseal cortex, Unrelated parents, Vara.
Abstract
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. Seckel syndrome is associated with defective ATR dependent DNA damage signalling. In 2008, loss-of-function mutations in the pericentrin gene (PCNT) have been identified in 28 patients, including 3 SCKL and 25 MOPDII cases. This gene encodes a centrosomal protein which plays a key role in the organisation of mitotic spindles. The aim of this study was to analyse PCNT in a large series of SCKL-MOPD II cases to further define the clinical spectrum associated with PCNT mutations. Among 18 consanguineous families (13 SCKL and 5 MOPDII) and 6 isolated cases (3 SCKL and 3 MOPD II), 13 distinct mutations were identified in 5/16 SCKL and 8/8 MOPDII including five stop mutations, five frameshift mutations, two splice site mutations, and one apparent missense mutation affecting the last base of exon 19. Moreover, we demonstrated that this latter mutation leads to an abnormal splicing with a predicted premature termination of translation. The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.
Url:
DOI: 10.1136/jmg.2009.067298
Affiliations:
- France, Liban
- Auvergne-Rhône-Alpes, Grand Est, Lorraine (région), Midi-Pyrénées, Occitanie (région administrative), Rhône-Alpes, Île-de-France
- Lyon, Nancy, Paris, Toulouse
- Université Paris-Descartes
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Le document en format XML
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Bieth</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Hôpital Purpan, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P" last="Edery">P. Edery</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Hospices Civils de Lyon, Groupement Hospitalier Est, Service de Cytogénétique Constitutionnelle, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Farra, C" sort="Farra, C" uniqKey="Farra C" first="C" last="Farra">C. 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Verloes</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Hôpital Robert Debré, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Colleaux, L" sort="Colleaux, L" uniqKey="Colleaux L" first="L" last="Colleaux">L. Colleaux</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, INSERM U781, Department of Genetics, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Munnich, A" sort="Munnich, A" uniqKey="Munnich A" first="A" last="Munnich">A. Munnich</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, INSERM U781, Department of Genetics, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, INSERM U781, Department of Genetics, Hôpital Necker, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2010-12">2010-12</date><biblScope unit="volume">47</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="797">797</biblScope></imprint><idno type="ISSN">0022-2593</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Anomaly</term><term>Carpal</term><term>Carpal fusion</term><term>Clinical features</term><term>Consanguineous families</term><term>Coxa</term><term>Coxa vara</term><term>Distinct mutations</term><term>Exon</term><term>Facial features</term><term>Genet</term><term>Genetics</term><term>Growth retardation</term><term>Lait spots</term><term>Microcephalic</term><term>Microcephalic osteodysplastic</term><term>Microcephaly</term><term>Mopd</term><term>Mopdii</term><term>Mopdii patients</term><term>Mutation</term><term>Osteodysplastic</term><term>Pcnt</term><term>Pcnt mutation</term><term>Pcnt mutations</term><term>Pericentrin</term><term>Pericentrin gene</term><term>Premature termination</term><term>Sckl</term><term>Sckl patients</term><term>Seckel</term><term>Seckel syndrome</term><term>Short femoral neck</term><term>Short stature</term><term>Subglottic stenosis</term><term>Syndrome</term><term>Thick diaphyseal cortex</term><term>Unrelated parents</term><term>Vara</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. Seckel syndrome is associated with defective ATR dependent DNA damage signalling. In 2008, loss-of-function mutations in the pericentrin gene (PCNT) have been identified in 28 patients, including 3 SCKL and 25 MOPDII cases. This gene encodes a centrosomal protein which plays a key role in the organisation of mitotic spindles. The aim of this study was to analyse PCNT in a large series of SCKL-MOPD II cases to further define the clinical spectrum associated with PCNT mutations. Among 18 consanguineous families (13 SCKL and 5 MOPDII) and 6 isolated cases (3 SCKL and 3 MOPD II), 13 distinct mutations were identified in 5/16 SCKL and 8/8 MOPDII including five stop mutations, five frameshift mutations, two splice site mutations, and one apparent missense mutation affecting the last base of exon 19. Moreover, we demonstrated that this latter mutation leads to an abnormal splicing with a predicted premature termination of translation. The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.</div></front></TEI><affiliations><list><country><li>France</li><li>Liban</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Grand Est</li><li>Lorraine (région)</li><li>Midi-Pyrénées</li><li>Occitanie (région administrative)</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><settlement><li>Lyon</li><li>Nancy</li><li>Paris</li><li>Toulouse</li></settlement><orgName><li>Université Paris-Descartes</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Willems, M" sort="Willems, M" uniqKey="Willems M" first="M" last="Willems">M. Willems</name></region><name sortKey="Baujat, G" sort="Baujat, G" uniqKey="Baujat G" first="G" last="Baujat">G. Baujat</name><name sortKey="Baumann, C" sort="Baumann, C" uniqKey="Baumann C" first="C" last="Baumann">C. Baumann</name><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><name sortKey="Borck, G" sort="Borck, G" uniqKey="Borck G" first="G" last="Borck">G. Borck</name><name sortKey="Colleaux, L" sort="Colleaux, L" uniqKey="Colleaux L" first="L" last="Colleaux">L. Colleaux</name><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P" last="Edery">P. Edery</name><name sortKey="Genevieve, D" sort="Genevieve, D" uniqKey="Genevieve D" first="D" last="Geneviève">D. Geneviève</name><name sortKey="Gerard, M" sort="Gerard, M" uniqKey="Gerard M" first="M" last="Gerard">M. Gerard</name><name sortKey="Heron, D" sort="Heron, D" uniqKey="Heron D" first="D" last="Héron">D. Héron</name><name sortKey="Le Merrer, M" sort="Le Merrer, M" uniqKey="Le Merrer M" first="M" last="Le Merrer">M. Le Merrer</name><name sortKey="Leheup, B" sort="Leheup, B" uniqKey="Leheup B" first="B" last="Leheup">B. Leheup</name><name sortKey="Lyonnet, S" sort="Lyonnet, S" uniqKey="Lyonnet S" first="S" last="Lyonnet">S. Lyonnet</name><name sortKey="Martin Coignard, D" sort="Martin Coignard, D" uniqKey="Martin Coignard D" first="D" last="Martin-Coignard">D. Martin-Coignard</name><name sortKey="Mathieu, M" sort="Mathieu, M" uniqKey="Mathieu M" first="M" last="Mathieu">M. Mathieu</name><name sortKey="Munnich, A" sort="Munnich, A" uniqKey="Munnich A" first="A" last="Munnich">A. Munnich</name><name sortKey="Thauvin Robinet, C" sort="Thauvin Robinet, C" uniqKey="Thauvin Robinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><name sortKey="Verloes, A" sort="Verloes, A" uniqKey="Verloes A" first="A" last="Verloes">A. Verloes</name></country><country name="Liban"><noRegion><name sortKey="Farra, C" sort="Farra, C" uniqKey="Farra C" first="C" last="Farra">C. Farra</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:77E69736A97BCCB9A66027AD0DB08B3ED926D71F
|texte= Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
}}
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