Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Identifieur interne : 001388 ( PubMed/Curation ); précédent : 001387; suivant : 001389Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Auteurs : Johane M. Robitaille [Canada] ; Roxanne M. Gillett [Canada] ; Marissa A. Leblanc [Canada] ; Daniel Gaston [Canada] ; Mathew Nightingale [Canada] ; Michael P. Mackley [Canada] ; Sandhya Parkash [Canada] ; Julie Hathaway [Canada] ; Aidan Thomas [Canada] ; Anna Ells [Canada] ; Elias I. Traboulsi [États-Unis] ; Elise Héon [Canada] ; Mélanie Roy [Canada] ; Stavit Shalev [Israël] ; Conrad V. Fernandez [Canada] ; Christine Macgillivray [Canada] ; Karin Wallace [Canada] ; Somayyeh Fahiminiya [Canada] ; Jacek Majewski [Canada] ; Christopher R. Mcmaster [Canada] ; Karen Bedard [Canada]Source :
- JAMA ophthalmology [ 2168-6173 ] ; 2014.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Angiographie fluorescéinique, Données de séquences moléculaires, Dysplasie rétinienne (diagnostic), Dysplasie rétinienne (génétique), Enfant, Enfant d'âge préscolaire, Exons (génétique), Faciès, Femelle, Humains, Kinésine (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Microcéphalie (diagnostic), Microcéphalie (génétique), Mutation, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Rétinopathies (diagnostic), Rétinopathies (génétique), Séquence nucléotidique, Électrophysiologie.
- MESH :
- diagnostic : Dysplasie rétinienne, Lymphoedème, Microcéphalie, Rétinopathies.
- génétique : Dysplasie rétinienne, Exons, Kinésine, Lymphoedème, Microcéphalie, Rétinopathies.
- Analyse de mutations d'ADN, Angiographie fluorescéinique, Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Faciès, Femelle, Humains, Mutation, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Séquence nucléotidique, Électrophysiologie.
English descriptors
- KwdEn :
- Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Electrophysiology, Exons (genetics), Facies, Female, Fluorescein Angiography, Humans, Kinesin (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Male, Microcephaly (diagnosis), Microcephaly (genetics), Molecular Sequence Data, Mutation, Pedigree, Phenotype, Polymerase Chain Reaction, Retinal Diseases (diagnosis), Retinal Diseases (genetics), Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics).
- MESH :
- chemical , genetics : Kinesin.
- diagnosis : Lymphedema, Microcephaly, Retinal Diseases, Retinal Dysplasia.
- genetics : Exons, Lymphedema, Microcephaly, Retinal Diseases, Retinal Dysplasia.
- Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Electrophysiology, Facies, Female, Fluorescein Angiography, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Polymerase Chain Reaction.
Abstract
Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR). Ophthalmologists should be aware of the range of presentations for mutations in KIF11 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in patients with these conditions.
DOI: 10.1001/jamaophthalmol.2014.2814
PubMed: 25124931
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Traboulsi</name><affiliation wicri:level="2"><nlm:affiliation>Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Cole Eye Institute, Cleveland Clinic, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Heon, Elise" sort="Heon, Elise" uniqKey="Heon E" first="Elise" last="Héon">Elise Héon</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Roy, Melanie" sort="Roy, Melanie" uniqKey="Roy M" first="Mélanie" last="Roy">Mélanie Roy</name><affiliation wicri:level="1"><nlm:affiliation>Réseau de santé Vitalité Health Network, Hôpital regional Chaleur Regional Hospital, Bathurst, New Brunswick, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Réseau de santé Vitalité Health Network, Hôpital regional Chaleur Regional Hospital, Bathurst, New Brunswick</wicri:regionArea></affiliation></author><author><name sortKey="Shalev, Stavit" sort="Shalev, Stavit" uniqKey="Shalev S" first="Stavit" last="Shalev">Stavit Shalev</name><affiliation wicri:level="1"><nlm:affiliation>Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa</wicri:regionArea></affiliation></author><author><name sortKey="Fernandez, Conrad V" sort="Fernandez, Conrad V" uniqKey="Fernandez C" first="Conrad V" last="Fernandez">Conrad V. Fernandez</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Pediatric Oncology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Pediatric Oncology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Macgillivray, Christine" sort="Macgillivray, Christine" uniqKey="Macgillivray C" first="Christine" last="Macgillivray">Christine Macgillivray</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Capital Health, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology, Capital Health, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Wallace, Karin" sort="Wallace, Karin" uniqKey="Wallace K" first="Karin" last="Wallace">Karin Wallace</name><affiliation wicri:level="1"><nlm:affiliation>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea></affiliation></author><author><name sortKey="Mcmaster, Christopher R" sort="Mcmaster, Christopher R" uniqKey="Mcmaster C" first="Christopher R" last="Mcmaster">Christopher R. Mcmaster</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Bedard, Karen" sort="Bedard, Karen" uniqKey="Bedard K" first="Karen" last="Bedard">Karen Bedard</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25124931</idno><idno type="pmid">25124931</idno><idno type="doi">10.1001/jamaophthalmol.2014.2814</idno><idno type="wicri:Area/PubMed/Corpus">001388</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001388</idno><idno type="wicri:Area/PubMed/Curation">001388</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001388</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.</title><author><name sortKey="Robitaille, Johane M" sort="Robitaille, Johane M" uniqKey="Robitaille J" first="Johane M" last="Robitaille">Johane M. Robitaille</name><affiliation wicri:level="1"><nlm:affiliation>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada3Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada3Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Gillett, Roxanne M" sort="Gillett, Roxanne M" uniqKey="Gillett R" first="Roxanne M" last="Gillett">Roxanne M. Gillett</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Leblanc, Marissa A" sort="Leblanc, Marissa A" uniqKey="Leblanc M" first="Marissa A" last="Leblanc">Marissa A. Leblanc</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Gaston, Daniel" sort="Gaston, Daniel" uniqKey="Gaston D" first="Daniel" last="Gaston">Daniel Gaston</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Nightingale, Mathew" sort="Nightingale, Mathew" uniqKey="Nightingale M" first="Mathew" last="Nightingale">Mathew Nightingale</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Mackley, Michael P" sort="Mackley, Michael P" uniqKey="Mackley M" first="Michael P" last="Mackley">Michael P. Mackley</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Parkash, Sandhya" sort="Parkash, Sandhya" uniqKey="Parkash S" first="Sandhya" last="Parkash">Sandhya Parkash</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Maritime Medical Genetics Service, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Maritime Medical Genetics Service, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Hathaway, Julie" sort="Hathaway, Julie" uniqKey="Hathaway J" first="Julie" last="Hathaway">Julie Hathaway</name><affiliation wicri:level="1"><nlm:affiliation>Providence Health Care Heart Centre, St. Paul's Hospital, Vancouver Coastal Health, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Providence Health Care Heart Centre, St. Paul's Hospital, Vancouver Coastal Health, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Thomas, Aidan" sort="Thomas, Aidan" uniqKey="Thomas A" first="Aidan" last="Thomas">Aidan Thomas</name><affiliation wicri:level="1"><nlm:affiliation>Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Ells, Anna" sort="Ells, Anna" uniqKey="Ells A" first="Anna" last="Ells">Anna Ells</name><affiliation wicri:level="1"><nlm:affiliation>Department of Surgery, University of Calgary, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Surgery, University of Calgary, Alberta Children's Hospital Research Institute, Calgary, Alberta</wicri:regionArea></affiliation></author><author><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I" last="Traboulsi">Elias I. Traboulsi</name><affiliation wicri:level="2"><nlm:affiliation>Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Cole Eye Institute, Cleveland Clinic, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Heon, Elise" sort="Heon, Elise" uniqKey="Heon E" first="Elise" last="Héon">Elise Héon</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Roy, Melanie" sort="Roy, Melanie" uniqKey="Roy M" first="Mélanie" last="Roy">Mélanie Roy</name><affiliation wicri:level="1"><nlm:affiliation>Réseau de santé Vitalité Health Network, Hôpital regional Chaleur Regional Hospital, Bathurst, New Brunswick, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Réseau de santé Vitalité Health Network, Hôpital regional Chaleur Regional Hospital, Bathurst, New Brunswick</wicri:regionArea></affiliation></author><author><name sortKey="Shalev, Stavit" sort="Shalev, Stavit" uniqKey="Shalev S" first="Stavit" last="Shalev">Stavit Shalev</name><affiliation wicri:level="1"><nlm:affiliation>Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa</wicri:regionArea></affiliation></author><author><name sortKey="Fernandez, Conrad V" sort="Fernandez, Conrad V" uniqKey="Fernandez C" first="Conrad V" last="Fernandez">Conrad V. Fernandez</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Pediatric Oncology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Pediatric Oncology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Macgillivray, Christine" sort="Macgillivray, Christine" uniqKey="Macgillivray C" first="Christine" last="Macgillivray">Christine Macgillivray</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Capital Health, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology, Capital Health, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Wallace, Karin" sort="Wallace, Karin" uniqKey="Wallace K" first="Karin" last="Wallace">Karin Wallace</name><affiliation wicri:level="1"><nlm:affiliation>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea></affiliation></author><author><name sortKey="Mcmaster, Christopher R" sort="Mcmaster, Christopher R" uniqKey="Mcmaster C" first="Christopher R" last="Mcmaster">Christopher R. Mcmaster</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author><author><name sortKey="Bedard, Karen" sort="Bedard, Karen" uniqKey="Bedard K" first="Karen" last="Bedard">Karen Bedard</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Dalhousie University, Halifax, Nova Scotia</wicri:regionArea></affiliation></author></analytic><series><title level="j">JAMA ophthalmology</title><idno type="eISSN">2168-6173</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Electrophysiology</term><term>Exons (genetics)</term><term>Facies</term><term>Female</term><term>Fluorescein Angiography</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>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Retinal Diseases (diagnosis)</term><term>Retinal Diseases (genetics)</term><term>Retinal Dysplasia (diagnosis)</term><term>Retinal Dysplasia (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Angiographie fluorescéinique</term><term>Données de séquences moléculaires</term><term>Dysplasie rétinienne (diagnostic)</term><term>Dysplasie rétinienne (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Exons (génétique)</term><term>Faciès</term><term>Femelle</term><term>Humains</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>Pedigree</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Rétinopathies (diagnostic)</term><term>Rétinopathies (génétique)</term><term>Séquence nucléotidique</term><term>Électrophysiologie</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>Exons</term><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>Exons</term><term>Kinésine</term><term>Lymphoedème</term><term>Microcéphalie</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Electrophysiology</term><term>Facies</term><term>Female</term><term>Fluorescein Angiography</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Angiographie fluorescéinique</term><term>Données de séquences moléculaires</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Séquence nucléotidique</term><term>Électrophysiologie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR). Ophthalmologists should be aware of the range of presentations for mutations in KIF11 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in patients with these conditions.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25124931</PMID><DateCreated><Year>2014</Year><Month>12</Month><Day>16</Day></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>04</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">2168-6173</ISSN><JournalIssue CitedMedium="Internet"><Volume>132</Volume><Issue>12</Issue><PubDate><Year>2014</Year><Month>Dec</Month></PubDate></JournalIssue><Title>JAMA ophthalmology</Title><ISOAbbreviation>JAMA Ophthalmol</ISOAbbreviation></Journal><ArticleTitle>Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.</ArticleTitle><Pagination><MedlinePgn>1393-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1001/jamaophthalmol.2014.2814</ELocationID><Abstract><AbstractText Label="IMPORTANCE" NlmCategory="OBJECTIVE">Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR). Ophthalmologists should be aware of the range of presentations for mutations in KIF11 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in patients with these conditions.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To identify gene mutations in patients who present with a FEVR phenotype and explore the spectrum of ocular and systemic abnormalities caused by KIF11 mutations in a cohort of patients with FEVR or microcephaly in conjunction with chorioretinopathy or FEVR.</AbstractText><AbstractText Label="DESIGN, SETTING, AND PARTICIPANTS" NlmCategory="METHODS">Clinical data and DNA were collected from each participant between 1998 and 2013 from the clinical practices of ophthalmologists and clinical geneticists internationally. Twenty-eight FEVR probands with diagnoses made by the referring physician and without a known FEVR gene mutation, and 3 with microcephaly and chorioretinopathy, were included. At least 1 patient in each pedigree manifested 1 or more of the following: macular dragging, partial retinal detachment, falciform folds, or total retinal detachment.</AbstractText><AbstractText Label="EXPOSURES" NlmCategory="METHODS">Whole-exome sequencing was conducted on affected members in multiplex pedigrees, and Sanger sequencing of the 22 exons of the KIF11 gene was performed on singletons. Clinical data and history were collected and reviewed.</AbstractText><AbstractText Label="MAIN OUTCOMES AND MEASURES" NlmCategory="METHODS">Identification of mutations in KIF11.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Four novel heterozygous KIF11 mutations and 1 previously published mutation were identified in probands with FEVR: p.A218Gfs*15, p.E470X, p.R221G, c.790-1G>T, and the previously described heterozygous p.R47X. Documentation of peripheral avascular areas on intravenous fluorescein angiography was possible in 2 probands with fibrovascular proliferation demonstrating phenotypic overlap with FEVR.</AbstractText><AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">Mutations in KIF11 cause a broader spectrum of ocular disease than previously reported, including retinal detachment. The KIF11 gene likely plays a role in retinal vascular development and mutations in this gene can lead to clinical overlap with FEVR. Cases of FEVR should be carefully inspected for the presence of microcephaly as a marker for KIF11-related disease to enhance the accuracy of the prognosis and genetic counseling.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Robitaille</LastName><ForeName>Johane M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada3Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gillett</LastName><ForeName>Roxanne M</ForeName><Initials>RM</Initials><AffiliationInfo><Affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>LeBlanc</LastName><ForeName>Marissa A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gaston</LastName><ForeName>Daniel</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nightingale</LastName><ForeName>Mathew</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mackley</LastName><ForeName>Michael P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parkash</LastName><ForeName>Sandhya</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Maritime Medical Genetics Service, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hathaway</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Providence Health Care Heart Centre, St. Paul's Hospital, Vancouver Coastal Health, Vancouver, British Columbia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thomas</LastName><ForeName>Aidan</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ells</LastName><ForeName>Anna</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Surgery, University of Calgary, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Traboulsi</LastName><ForeName>Elias I</ForeName><Initials>EI</Initials><AffiliationInfo><Affiliation>Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Héon</LastName><ForeName>Elise</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Roy</LastName><ForeName>Mélanie</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Réseau de santé Vitalité Health Network, Hôpital regional Chaleur Regional Hospital, Bathurst, New Brunswick, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shalev</LastName><ForeName>Stavit</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fernandez</LastName><ForeName>Conrad V</ForeName><Initials>CV</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Pediatric Oncology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>MacGillivray</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Ophthalmology, Capital Health, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wallace</LastName><ForeName>Karin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fahiminiya</LastName><ForeName>Somayyeh</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Majewski</LastName><ForeName>Jacek</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McMaster</LastName><ForeName>Christopher R</ForeName><Initials>CR</Initials><AffiliationInfo><Affiliation>Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bedard</LastName><ForeName>Karen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>JAMA Ophthalmol</MedlineTA><NlmUniqueID>101589539</NlmUniqueID><ISSNLinking>2168-6165</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C470243">KIF11 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.4.4</RegistryNumber><NameOfSubstance UI="D016547">Kinesin</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C580083">Familial Exudative Vitreoretinopathy</SupplMeshName><SupplMeshName Type="Disease" UI="C537711">Lymphedema, microcephaly and chorioretinopathy syndrome</SupplMeshName></SupplMeshList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004594" MajorTopicYN="N">Electrophysiology</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019066" MajorTopicYN="N">Facies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005451" MajorTopicYN="N">Fluorescein Angiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016547" MajorTopicYN="N">Kinesin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012164" MajorTopicYN="N">Retinal Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015792" MajorTopicYN="N">Retinal Dysplasia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>8</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>8</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>3</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25124931</ArticleId><ArticleId IdType="pii">1895296</ArticleId><ArticleId 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