Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
Identifieur interne : 000D32 ( Main/Exploration ); précédent : 000D31; suivant : 000D33Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
Auteurs : Irina Balikova [Royaume-Uni] ; Anthony G. Robson [Royaume-Uni] ; Graham E. Holder [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni]Source :
- Acta ophthalmologica [ 1755-3768 ] ; 2016.
Descripteurs français
- KwdFr :
- Acuité visuelle, Dysplasie rétinienne (diagnostic), Dysplasie rétinienne (génétique), Enfant, Enfant d'âge préscolaire, Faciès, Femelle, Humains, Imagerie optique, Kinésine (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Microcéphalie (diagnostic), Microcéphalie (génétique), Mutation, Mâle, Phénotype, Rétinopathies (diagnostic), Rétinopathies (génétique), Tomographie par cohérence optique, Électrorétinographie.
- MESH :
- diagnostic : Dysplasie rétinienne, Lymphoedème, Microcéphalie, Rétinopathies.
- génétique : Dysplasie rétinienne, Kinésine, Lymphoedème, Microcéphalie, Rétinopathies.
- Acuité visuelle, Enfant, Enfant d'âge préscolaire, Faciès, Femelle, Humains, Imagerie optique, Mutation, Mâle, Phénotype, Tomographie par cohérence optique, Électrorétinographie.
English descriptors
- KwdEn :
- Child, Child, Preschool, Electroretinography, Facies, Female, Humans, Kinesin (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Male, Microcephaly (diagnosis), Microcephaly (genetics), Mutation, Optical Imaging, Phenotype, Retinal Diseases (diagnosis), Retinal Diseases (genetics), Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Tomography, Optical Coherence, Visual Acuity.
- MESH :
- chemical , genetics : Kinesin.
- diagnosis : Lymphedema, Microcephaly, Retinal Diseases, Retinal Dysplasia.
- genetics : Lymphedema, Microcephaly, Retinal Diseases, Retinal Dysplasia.
- Child, Child, Preschool, Electroretinography, Facies, Female, Humans, Male, Mutation, Optical Imaging, Phenotype, Tomography, Optical Coherence, Visual Acuity.
Abstract
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations.
DOI: 10.1111/aos.12759
PubMed: 25996076
Affiliations:
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Robson</name><affiliation wicri:level="3"><nlm:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Holder, Graham E" sort="Holder, Graham E" uniqKey="Holder G" first="Graham E" last="Holder">Graham E. Holder</name><affiliation wicri:level="3"><nlm:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:affiliation>Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cardiovascular & Cell Sciences Research Institute, St George's University of London, 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, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="3"><nlm:affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T" last="Moore">Anthony T. Moore</name><affiliation wicri:level="3"><nlm:affiliation>Moorfields Eye Hospital, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">Acta ophthalmologica</title><idno type="eISSN">1755-3768</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Electroretinography</term><term>Facies</term><term>Female</term><term>Humans</term><term>Kinesin (genetics)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microcephaly (diagnosis)</term><term>Microcephaly (genetics)</term><term>Mutation</term><term>Optical Imaging</term><term>Phenotype</term><term>Retinal Diseases (diagnosis)</term><term>Retinal Diseases (genetics)</term><term>Retinal Dysplasia (diagnosis)</term><term>Retinal Dysplasia (genetics)</term><term>Tomography, Optical Coherence</term><term>Visual Acuity</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Acuité visuelle</term><term>Dysplasie rétinienne (diagnostic)</term><term>Dysplasie rétinienne (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Imagerie optique</term><term>Kinésine (génétique)</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Microcéphalie (diagnostic)</term><term>Microcéphalie (génétique)</term><term>Mutation</term><term>Mâle</term><term>Phénotype</term><term>Rétinopathies (diagnostic)</term><term>Rétinopathies (génétique)</term><term>Tomographie par cohérence optique</term><term>Électrorétinographie</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Diseases</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dysplasie rétinienne</term><term>Lymphoedème</term><term>Microcéphalie</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Diseases</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dysplasie rétinienne</term><term>Kinésine</term><term>Lymphoedème</term><term>Microcéphalie</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Electroretinography</term><term>Facies</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Optical Imaging</term><term>Phenotype</term><term>Tomography, Optical Coherence</term><term>Visual Acuity</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Acuité visuelle</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Imagerie optique</term><term>Mutation</term><term>Mâle</term><term>Phénotype</term><term>Tomographie par cohérence optique</term><term>Électrorétinographie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations.</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><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Balikova, Irina" sort="Balikova, Irina" uniqKey="Balikova I" first="Irina" last="Balikova">Irina Balikova</name></region><name sortKey="Holder, Graham E" sort="Holder, Graham E" uniqKey="Holder G" first="Graham E" last="Holder">Graham E. Holder</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T" last="Moore">Anthony T. Moore</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Robson, Anthony G" sort="Robson, Anthony G" uniqKey="Robson A" first="Anthony G" last="Robson">Anthony G. Robson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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