AustralieFrV1, Main, Exploration, bibRecord, 001A75

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Identifieur interne : 001A75 ( Main/Exploration ); précédent : 001A74; suivant : 001A76

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Auteurs : Aideen M. Mcinerney-Leo [Australie] ; Carine Le Goff [France] ; Paul J. Leo [Australie] ; Tony J. Kenna [Australie] ; Patricia Keith [Australie] ; Jessica E. Harris [Australie] ; Ruth Steer [Royaume-Uni] ; Christine Bole-Feysot [France] ; Patrick Nitschke [France] ; Cay Kielty [Royaume-Uni] ; Matthew A. Brown [Australie] ; Andreas Zankl [Australie] ; Emma L. Duncan [Australie] ; Valerie Cormier-Daire [France]

Source :

Journal of medical genetics [ 1468-6244 ] ; 2016.

RBID : pubmed:27068007

Descripteurs français

English descriptors

KwdEn :
- Bone Diseases, Developmental (genetics), Exome (genetics), Exons (genetics), Fibrillin-1 (genetics), Heterozygote, Humans, Latent TGF-beta Binding Proteins (genetics), Limb Deformities, Congenital (genetics), Microfilament Proteins (genetics), Mutation, Mutation, Missense (genetics), Phenotype, Transforming Growth Factor beta (genetics), Weill-Marchesani Syndrome (genetics).
MESH :
- chemical , genetics : Fibrillin-1, Latent TGF-beta Binding Proteins, Microfilament Proteins, Transforming Growth Factor beta.
- genetics : Bone Diseases, Developmental, Exome, Exons, Limb Deformities, Congenital, Mutation, Missense, Weill-Marchesani Syndrome.
- Heterozygote, Humans, Mutation, Phenotype.

Abstract

Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes.

DOI: 10.1136/jmedgenet-2015-103647
PubMed: 27068007

Affiliations:

Le document en format XML

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<term>Exome (genetics)</term>
<term>Exons (genetics)</term>
<term>Fibrillin-1 (genetics)</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Latent TGF-beta Binding Proteins (genetics)</term>
<term>Limb Deformities, Congenital (genetics)</term>
<term>Microfilament Proteins (genetics)</term>
<term>Mutation</term>
<term>Mutation, Missense (genetics)</term>
<term>Phenotype</term>
<term>Transforming Growth Factor beta (genetics)</term>
<term>Weill-Marchesani Syndrome (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Anomalies morphologiques congénitales des membres (génétique)</term>
<term>Dysplasies osseuses (génétique)</term>
<term>Exome (génétique)</term>
<term>Exons (génétique)</term>
<term>Facteur de croissance transformant bêta (génétique)</term>
<term>Fibrilline-1 (génétique)</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Mutation</term>
<term>Mutation faux-sens (génétique)</term>
<term>Phénotype</term>
<term>Protéines de liaison au TGF-bêta latent (génétique)</term>
<term>Protéines des microfilaments (génétique)</term>
<term>Syndrome de Weill-Marchesani (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fibrillin-1</term>
<term>Latent TGF-beta Binding Proteins</term>
<term>Microfilament Proteins</term>
<term>Transforming Growth Factor beta</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Bone Diseases, Developmental</term>
<term>Exome</term>
<term>Exons</term>
<term>Limb Deformities, Congenital</term>
<term>Mutation, Missense</term>
<term>Weill-Marchesani Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales des membres</term>
<term>Dysplasies osseuses</term>
<term>Exome</term>
<term>Exons</term>
<term>Facteur de croissance transformant bêta</term>
<term>Fibrilline-1</term>
<term>Mutation faux-sens</term>
<term>Protéines de liaison au TGF-bêta latent</term>
<term>Protéines des microfilaments</term>
<term>Syndrome de Weill-Marchesani</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Heterozygote</term>
<term>Humans</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Humains</term>
<term>Hétérozygote</term>
<term>Mutation</term>
<term>Phénotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Manchester</li>
<li>Nouvelle-Galles du Sud</li>
<li>Île-de-France</li>
</region>
<settlement><li>Manchester</li>
<li>Paris</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université de Manchester</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Mcinerney Leo, Aideen M" sort="Mcinerney Leo, Aideen M" uniqKey="Mcinerney Leo A" first="Aideen M" last="Mcinerney-Leo">Aideen M. Mcinerney-Leo</name>
</noRegion>
<name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A" last="Brown">Matthew A. Brown</name>
<name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L" last="Duncan">Emma L. Duncan</name>
<name sortKey="Harris, Jessica E" sort="Harris, Jessica E" uniqKey="Harris J" first="Jessica E" last="Harris">Jessica E. Harris</name>
<name sortKey="Keith, Patricia" sort="Keith, Patricia" uniqKey="Keith P" first="Patricia" last="Keith">Patricia Keith</name>
<name sortKey="Kenna, Tony J" sort="Kenna, Tony J" uniqKey="Kenna T" first="Tony J" last="Kenna">Tony J. Kenna</name>
<name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J" last="Leo">Paul J. Leo</name>
<name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Le Goff, Carine" sort="Le Goff, Carine" uniqKey="Le Goff C" first="Carine" last="Le Goff">Carine Le Goff</name>
</region>
<name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Steer, Ruth" sort="Steer, Ruth" uniqKey="Steer R" first="Ruth" last="Steer">Ruth Steer</name>
</region>
<name sortKey="Kielty, Cay" sort="Kielty, Cay" uniqKey="Kielty C" first="Cay" last="Kielty">Cay Kielty</name>
</country>
</tree>
</affiliations>
</record>

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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

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