A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
Identifieur interne : 003C43 ( Main/Exploration ); précédent : 003C42; suivant : 003C44A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
Auteurs : G. Brice [Royaume-Uni] ; P. Ostergaard ; S. Jeffery ; K. Gordon [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. MansourSource :
- Clinical Genetics [ 0009-9163 ] ; 2013-10.
Descripteurs français
- KwdFr :
- Adulte, Anomalies morphologiques congénitales du pied (diagnostic), Anomalies morphologiques congénitales du pied (génétique), Connexine 43 (génétique), Exons, Femelle, Humains, Lymphoedème (diagnostic), Lymphoedème (génétique), Lymphoscintigraphie, Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (génétique), Malformations dentaires (diagnostic), Malformations dentaires (génétique), Malformations multiples (génétique), Malformations oculaires (diagnostic), Malformations oculaires (génétique), Mutation, Pedigree, Phénotype, Syndactylie (diagnostic), Syndactylie (génétique).
- MESH :
- diagnostic : Anomalies morphologiques congénitales du pied, Lymphoedème, Malformations crâniofaciales, Malformations dentaires, Malformations oculaires, Syndactylie.
- génétique : Anomalies morphologiques congénitales du pied, Connexine 43, Lymphoedème, Malformations crâniofaciales, Malformations dentaires, Malformations multiples, Malformations oculaires, Syndactylie.
- Adulte, Exons, Femelle, Humains, Lymphoscintigraphie, Mutation, Pedigree, Phénotype.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Adult, Connexin 43 (genetics), Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (genetics), Exons, Eye Abnormalities (diagnosis), Eye Abnormalities (genetics), Female, Foot Deformities, Congenital (diagnosis), Foot Deformities, Congenital (genetics), Humans, Lymphedema (diagnosis), Lymphedema (genetics), Lymphoscintigraphy, Mutation, Pedigree, Phenotype, Syndactyly (diagnosis), Syndactyly (genetics), Tooth Abnormalities (diagnosis), Tooth Abnormalities (genetics).
- MESH :
- chemical , genetics : Connexin 43.
- diagnosis : Craniofacial Abnormalities, Eye Abnormalities, Foot Deformities, Congenital, Lymphedema, Syndactyly, Tooth Abnormalities.
- genetics : Abnormalities, Multiple, Craniofacial Abnormalities, Eye Abnormalities, Foot Deformities, Congenital, Lymphedema, Syndactyly, Tooth Abnormalities.
- Adult, Exons, Female, Humans, Lymphoscintigraphy, Mutation, Pedigree, Phenotype.
Abstract
Oculodentodigital syndrome (ODD; OMIM 164200) is a congenital condition with phenotypic features most commonly affecting the face, eyes, dentition and digits. The condition is caused by mutations in the GJA1 gene on chromosome 6. GJA1 codes for connexin 43, a gap junction protein important in providing cell to cell communication and is expressed in lymphatic valves. We present a patient with a clinical and molecular diagnosis of ODD and lower limb lymphoedema. Sanger sequencing of family members confirmed that the missense, p.K206R, GJA1 mutation segregated with the phenotype suggestive of causality. To our knowledge this association has not been reported previously. This is therefore the second connexin gene associated with a lymphoedema phenotype after the recent publication of GJC2 (connexin 47) as a cause of four limb lymphoedema.
Url:
DOI: 10.1111/cge.12158
Affiliations:
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Gordon</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Sciences, St George's University of London, SW17 0RE, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mortimer, Ps" sort="Mortimer, Ps" uniqKey="Mortimer P" first="Ps" last="Mortimer">Ps Mortimer</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Sciences, St George's University of London, SW17 0RE, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><affiliation><wicri:noCountry code="no comma">SW Thames Regional Genetics Service</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">84</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="378">378</biblScope><biblScope unit="page" to="381">381</biblScope><biblScope unit="page-count">4</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2013-10">2013-10</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Adult</term><term>Connexin 43 (genetics)</term><term>Craniofacial Abnormalities (diagnosis)</term><term>Craniofacial Abnormalities (genetics)</term><term>Exons</term><term>Eye Abnormalities (diagnosis)</term><term>Eye Abnormalities (genetics)</term><term>Female</term><term>Foot Deformities, Congenital (diagnosis)</term><term>Foot Deformities, Congenital (genetics)</term><term>Humans</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Lymphoscintigraphy</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Syndactyly (diagnosis)</term><term>Syndactyly (genetics)</term><term>Tooth Abnormalities (diagnosis)</term><term>Tooth Abnormalities (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Anomalies morphologiques congénitales du pied (diagnostic)</term><term>Anomalies morphologiques congénitales du pied (génétique)</term><term>Connexine 43 (génétique)</term><term>Exons</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Lymphoscintigraphie</term><term>Malformations crâniofaciales (diagnostic)</term><term>Malformations crâniofaciales (génétique)</term><term>Malformations dentaires (diagnostic)</term><term>Malformations dentaires (génétique)</term><term>Malformations multiples (génétique)</term><term>Malformations oculaires (diagnostic)</term><term>Malformations oculaires (génétique)</term><term>Mutation</term><term>Pedigree</term><term>Phénotype</term><term>Syndactylie (diagnostic)</term><term>Syndactylie (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Connexin 43</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Eye Abnormalities</term><term>Foot Deformities, Congenital</term><term>Lymphedema</term><term>Syndactyly</term><term>Tooth Abnormalities</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anomalies morphologiques congénitales du pied</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term><term>Malformations dentaires</term><term>Malformations oculaires</term><term>Syndactylie</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Craniofacial Abnormalities</term><term>Eye Abnormalities</term><term>Foot Deformities, Congenital</term><term>Lymphedema</term><term>Syndactyly</term><term>Tooth Abnormalities</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales du pied</term><term>Connexine 43</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term><term>Malformations dentaires</term><term>Malformations multiples</term><term>Malformations oculaires</term><term>Syndactylie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Exons</term><term>Female</term><term>Humans</term><term>Lymphoscintigraphy</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Exons</term><term>Femelle</term><term>Humains</term><term>Lymphoscintigraphie</term><term>Mutation</term><term>Pedigree</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Oculodentodigital syndrome (ODD; OMIM 164200) is a congenital condition with phenotypic features most commonly affecting the face, eyes, dentition and digits. The condition is caused by mutations in the GJA1 gene on chromosome 6. GJA1 codes for connexin 43, a gap junction protein important in providing cell to cell communication and is expressed in lymphatic valves. We present a patient with a clinical and molecular diagnosis of ODD and lower limb lymphoedema. Sanger sequencing of family members confirmed that the missense, p.K206R, GJA1 mutation segregated with the phenotype suggestive of causality. To our knowledge this association has not been reported previously. This is therefore the second connexin gene associated with a lymphoedema phenotype after the recent publication of GJC2 (connexin 47) as a cause of four limb lymphoedema.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><noCountry><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name></noRegion><name sortKey="Gordon, K" sort="Gordon, K" uniqKey="Gordon K" first="K" last="Gordon">K. Gordon</name><name sortKey="Mortimer, Ps" sort="Mortimer, Ps" uniqKey="Mortimer P" first="Ps" last="Mortimer">Ps Mortimer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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