Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies
Identifieur interne : 006992 ( Main/Exploration ); précédent : 006991; suivant : 006993Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies
Auteurs : Vict Ria Tall N-Walton [Espagne] ; Maria Cristina Manzanares-Céspedes [Espagne] ; Sirpa Arte [Finlande] ; Patricia Carvalho-Lobato [Espagne] ; Ivan Valdivia-Gandur [Espagne] ; Antonio Garcia-Susperregui [Espagne] ; Francesc Ventura [Espagne] ; Pekka Nieminen [Finlande]Source :
- European Journal of Oral Sciences [ 0909-8836 ] ; 2007-12.
English descriptors
- KwdEn :
- Agenesis, Anamnestic data, Anomaly, Barcelona, Barcelona university, Buccal swabs, Codon, Congenital, Congenital absence, Dental agenesis, Dental anomalies, Dental development, Dental structures, Developmental factors, Diabetes mellitus, Exon, Family members, Genet, Heterozygote transition, Hypercholesterolemia, Hypodontia, Important role, Incisor, Molar, Msx1, Mutation, Novel mutation, Oligodontia, Panoramic radiographs, Pax9, Pax9 gene, Pax9 mutation, Phenotype, Premolar, Present study, Primary teeth, Same family, Second premolars, Secondary teeth, Systemic entities, Termination codon, Third molars, Tooth agenesis.
- Teeft :
- Agenesis, Anamnestic data, Anomaly, Barcelona, Barcelona university, Buccal swabs, Codon, Congenital, Congenital absence, Dental agenesis, Dental anomalies, Dental development, Dental structures, Developmental factors, Diabetes mellitus, Exon, Family members, Genet, Heterozygote transition, Hypercholesterolemia, Hypodontia, Important role, Incisor, Molar, Msx1, Mutation, Novel mutation, Oligodontia, Panoramic radiographs, Pax9, Pax9 gene, Pax9 mutation, Phenotype, Premolar, Present study, Primary teeth, Same family, Second premolars, Secondary teeth, Systemic entities, Termination codon, Third molars, Tooth agenesis.
Abstract
The objective of the present work was to study the phenotype and the genotype of three generations of a family affected by oligodontia and other dental anomalies. These family members also presented systemic conditions such as hypercholesterolemia, hypothyroidism, diabetes mellitus, scoliosis, and congenital cardiovascular anomalies. Clinical evaluation, panoramic radiographs, and anamnestic data were used for dental analysis. DNA extraction was carried out from gum samples or buccal swabs. A mutation was identified in six subjects across three generations affected by oligodontia, as well as different phenotypical manifestations, both systemic and oral. The previously undescribed PAX9 mutation was observed in the paired box (exon 2); this was a heterozygote transition of C175 to T, implying the change of arginine 59 for a termination codon. These results strongly suggested that the identified mutation was the etiological cause of the oligodontia. However, in two family members affected by both hypodontia and peg‐shaped upper lateral incisors, no mutations in the PAX9 and MSX1 genes were identified. This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies.
Url:
DOI: 10.1111/j.1600-0722.2007.00492.x
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 006561
- to stream Istex, to step Curation: 006561
- to stream Istex, to step Checkpoint: 002942
- to stream Main, to step Merge: 006B00
- to stream Main, to step Curation: 006992
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies</title><author><name sortKey="Tall N Alton, Vict Ria" sort="Tall N Alton, Vict Ria" uniqKey="Tall N Alton V" first="Vict Ria" last="Tall N-Walton">Vict Ria Tall N-Walton</name></author><author><name sortKey="Manzanares Espedes, Maria Cristina" sort="Manzanares Espedes, Maria Cristina" uniqKey="Manzanares Espedes M" first="Maria Cristina" last="Manzanares-Céspedes">Maria Cristina Manzanares-Céspedes</name></author><author><name sortKey="Arte, Sirpa" sort="Arte, Sirpa" uniqKey="Arte S" first="Sirpa" last="Arte">Sirpa Arte</name></author><author><name sortKey="Carvalho Obato, Patricia" sort="Carvalho Obato, Patricia" uniqKey="Carvalho Obato P" first="Patricia" last="Carvalho-Lobato">Patricia Carvalho-Lobato</name></author><author><name sortKey="Valdivia Andur, Ivan" sort="Valdivia Andur, Ivan" uniqKey="Valdivia Andur I" first="Ivan" last="Valdivia-Gandur">Ivan Valdivia-Gandur</name></author><author><name sortKey="Garcia Usperregui, Antonio" sort="Garcia Usperregui, Antonio" uniqKey="Garcia Usperregui A" first="Antonio" last="Garcia-Susperregui">Antonio Garcia-Susperregui</name></author><author><name sortKey="Ventura, Francesc" sort="Ventura, Francesc" uniqKey="Ventura F" first="Francesc" last="Ventura">Francesc Ventura</name></author><author><name sortKey="Nieminen, Pekka" sort="Nieminen, Pekka" uniqKey="Nieminen P" first="Pekka" last="Nieminen">Pekka Nieminen</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:CC620249FA4A1F1C4F9F05F525172A82C1C62C2E</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1111/j.1600-0722.2007.00492.x</idno><idno type="url">https://api.istex.fr/document/CC620249FA4A1F1C4F9F05F525172A82C1C62C2E/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">006561</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">006561</idno><idno type="wicri:Area/Istex/Curation">006561</idno><idno type="wicri:Area/Istex/Checkpoint">002942</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002942</idno><idno type="wicri:doubleKey">0909-8836:2007:Tall N Alton V:identification:of:a</idno><idno type="wicri:Area/Main/Merge">006B00</idno><idno type="wicri:Area/Main/Curation">006992</idno><idno type="wicri:Area/Main/Exploration">006992</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Identification of a novel mutation in the <hi rend="italic">PAX9</hi> gene in a family affected by oligodontia and other dental anomalies</title><author><name sortKey="Tall N Alton, Vict Ria" sort="Tall N Alton, Vict Ria" uniqKey="Tall N Alton V" first="Vict Ria" last="Tall N-Walton">Vict Ria Tall N-Walton</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Manzanares Espedes, Maria Cristina" sort="Manzanares Espedes, Maria Cristina" uniqKey="Manzanares Espedes M" first="Maria Cristina" last="Manzanares-Céspedes">Maria Cristina Manzanares-Céspedes</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Arte, Sirpa" sort="Arte, Sirpa" uniqKey="Arte S" first="Sirpa" last="Arte">Sirpa Arte</name><affiliation wicri:level="4"><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute of Dentistry, Biomedicum, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Carvalho Obato, Patricia" sort="Carvalho Obato, Patricia" uniqKey="Carvalho Obato P" first="Patricia" last="Carvalho-Lobato">Patricia Carvalho-Lobato</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Valdivia Andur, Ivan" sort="Valdivia Andur, Ivan" uniqKey="Valdivia Andur I" first="Ivan" last="Valdivia-Gandur">Ivan Valdivia-Gandur</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Garcia Usperregui, Antonio" sort="Garcia Usperregui, Antonio" uniqKey="Garcia Usperregui A" first="Antonio" last="Garcia-Susperregui">Antonio Garcia-Susperregui</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Physiology II, Campus de Bellvitge, Barcelona University, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Ventura, Francesc" sort="Ventura, Francesc" uniqKey="Ventura F" first="Francesc" last="Ventura">Francesc Ventura</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Physiology II, Campus de Bellvitge, Barcelona University, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Nieminen, Pekka" sort="Nieminen, Pekka" uniqKey="Nieminen P" first="Pekka" last="Nieminen">Pekka Nieminen</name><affiliation wicri:level="4"><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute of Dentistry, Biomedicum, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">European Journal of Oral Sciences</title><title level="j" type="alt">EUROPEAN JOURNAL OF ORAL SCIENCES</title><idno type="ISSN">0909-8836</idno><idno type="eISSN">1600-0722</idno><imprint><biblScope unit="vol">115</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="427">427</biblScope><biblScope unit="page" to="432">432</biblScope><biblScope unit="page-count">6</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2007-12">2007-12</date></imprint><idno type="ISSN">0909-8836</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0909-8836</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Agenesis</term><term>Anamnestic data</term><term>Anomaly</term><term>Barcelona</term><term>Barcelona university</term><term>Buccal swabs</term><term>Codon</term><term>Congenital</term><term>Congenital absence</term><term>Dental agenesis</term><term>Dental anomalies</term><term>Dental development</term><term>Dental structures</term><term>Developmental factors</term><term>Diabetes mellitus</term><term>Exon</term><term>Family members</term><term>Genet</term><term>Heterozygote transition</term><term>Hypercholesterolemia</term><term>Hypodontia</term><term>Important role</term><term>Incisor</term><term>Molar</term><term>Msx1</term><term>Mutation</term><term>Novel mutation</term><term>Oligodontia</term><term>Panoramic radiographs</term><term>Pax9</term><term>Pax9 gene</term><term>Pax9 mutation</term><term>Phenotype</term><term>Premolar</term><term>Present study</term><term>Primary teeth</term><term>Same family</term><term>Second premolars</term><term>Secondary teeth</term><term>Systemic entities</term><term>Termination codon</term><term>Third molars</term><term>Tooth agenesis</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Agenesis</term><term>Anamnestic data</term><term>Anomaly</term><term>Barcelona</term><term>Barcelona university</term><term>Buccal swabs</term><term>Codon</term><term>Congenital</term><term>Congenital absence</term><term>Dental agenesis</term><term>Dental anomalies</term><term>Dental development</term><term>Dental structures</term><term>Developmental factors</term><term>Diabetes mellitus</term><term>Exon</term><term>Family members</term><term>Genet</term><term>Heterozygote transition</term><term>Hypercholesterolemia</term><term>Hypodontia</term><term>Important role</term><term>Incisor</term><term>Molar</term><term>Msx1</term><term>Mutation</term><term>Novel mutation</term><term>Oligodontia</term><term>Panoramic radiographs</term><term>Pax9</term><term>Pax9 gene</term><term>Pax9 mutation</term><term>Phenotype</term><term>Premolar</term><term>Present study</term><term>Primary teeth</term><term>Same family</term><term>Second premolars</term><term>Secondary teeth</term><term>Systemic entities</term><term>Termination codon</term><term>Third molars</term><term>Tooth agenesis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The objective of the present work was to study the phenotype and the genotype of three generations of a family affected by oligodontia and other dental anomalies. These family members also presented systemic conditions such as hypercholesterolemia, hypothyroidism, diabetes mellitus, scoliosis, and congenital cardiovascular anomalies. Clinical evaluation, panoramic radiographs, and anamnestic data were used for dental analysis. DNA extraction was carried out from gum samples or buccal swabs. A mutation was identified in six subjects across three generations affected by oligodontia, as well as different phenotypical manifestations, both systemic and oral. The previously undescribed PAX9 mutation was observed in the paired box (exon 2); this was a heterozygote transition of C175 to T, implying the change of arginine 59 for a termination codon. These results strongly suggested that the identified mutation was the etiological cause of the oligodontia. However, in two family members affected by both hypodontia and peg‐shaped upper lateral incisors, no mutations in the PAX9 and MSX1 genes were identified. This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies.</div></front></TEI><affiliations><list><country><li>Espagne</li><li>Finlande</li></country><region><li>Catalogne</li><li>Uusimaa</li></region><settlement><li>Barcelone</li><li>Helsinki</li></settlement><orgName><li>Université d'Helsinki</li></orgName></list><tree><country name="Espagne"><region name="Catalogne"><name sortKey="Tall N Alton, Vict Ria" sort="Tall N Alton, Vict Ria" uniqKey="Tall N Alton V" first="Vict Ria" last="Tall N-Walton">Vict Ria Tall N-Walton</name></region><name sortKey="Carvalho Obato, Patricia" sort="Carvalho Obato, Patricia" uniqKey="Carvalho Obato P" first="Patricia" last="Carvalho-Lobato">Patricia Carvalho-Lobato</name><name sortKey="Garcia Usperregui, Antonio" sort="Garcia Usperregui, Antonio" uniqKey="Garcia Usperregui A" first="Antonio" last="Garcia-Susperregui">Antonio Garcia-Susperregui</name><name sortKey="Manzanares Espedes, Maria Cristina" sort="Manzanares Espedes, Maria Cristina" uniqKey="Manzanares Espedes M" first="Maria Cristina" last="Manzanares-Céspedes">Maria Cristina Manzanares-Céspedes</name><name sortKey="Valdivia Andur, Ivan" sort="Valdivia Andur, Ivan" uniqKey="Valdivia Andur I" first="Ivan" last="Valdivia-Gandur">Ivan Valdivia-Gandur</name><name sortKey="Ventura, Francesc" sort="Ventura, Francesc" uniqKey="Ventura F" first="Francesc" last="Ventura">Francesc Ventura</name></country><country name="Finlande"><region name="Uusimaa"><name sortKey="Arte, Sirpa" sort="Arte, Sirpa" uniqKey="Arte S" first="Sirpa" last="Arte">Sirpa Arte</name></region><name sortKey="Arte, Sirpa" sort="Arte, Sirpa" uniqKey="Arte S" first="Sirpa" last="Arte">Sirpa Arte</name><name sortKey="Nieminen, Pekka" sort="Nieminen, Pekka" uniqKey="Nieminen P" first="Pekka" last="Nieminen">Pekka Nieminen</name><name sortKey="Nieminen, Pekka" sort="Nieminen, Pekka" uniqKey="Nieminen P" first="Pekka" last="Nieminen">Pekka Nieminen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006992 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006992 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:CC620249FA4A1F1C4F9F05F525172A82C1C62C2E
|texte= Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies
}}
| This area was generated with Dilib version V0.6.32. |  |