Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Identifieur interne : 002711 ( Main/Exploration ); précédent : 002710; suivant : 002712Phenotypic 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
Affiliations:
- Canada, Israël, États-Unis
- Alberta, Ohio, Ontario, Québec
- Calgary, Montréal, Toronto
- Université McGill, Université de Calgary, Université de Toronto
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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><wicri:noRegion>Nova Scotia</wicri:noRegion></affiliation></author><author><name sortKey="Gillett, Roxanne M" sort="Gillett, Roxanne M" uniqKey="Gillett R" first="Roxanne M" last="Gillett">Roxanne M. 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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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>British Columbia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></affiliation></author><author><name sortKey="Ells, Anna" sort="Ells, Anna" uniqKey="Ells A" first="Anna" last="Ells">Anna Ells</name><affiliation wicri:level="4"><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><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></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="4"><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><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></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><wicri:noRegion>New Brunswick</wicri:noRegion></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><wicri:noRegion>Haifa</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></affiliation></author><author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><affiliation wicri:level="4"><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><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="4"><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><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><idno type="wicri:Area/PubMed/Checkpoint">001388</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001388</idno><idno type="wicri:Area/Ncbi/Merge">006981</idno><idno type="wicri:Area/Ncbi/Curation">006981</idno><idno type="wicri:Area/Ncbi/Checkpoint">006981</idno><idno type="wicri:Area/Main/Merge">002715</idno><idno type="wicri:Area/Main/Curation">002711</idno><idno type="wicri:Area/Main/Exploration">002711</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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>British Columbia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></affiliation></author><author><name sortKey="Ells, Anna" sort="Ells, Anna" uniqKey="Ells A" first="Anna" last="Ells">Anna Ells</name><affiliation wicri:level="4"><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><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></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="4"><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><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></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><wicri:noRegion>New Brunswick</wicri:noRegion></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><wicri:noRegion>Haifa</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></affiliation></author><author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><affiliation wicri:level="4"><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><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="4"><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><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><wicri:noRegion>Nova Scotia</wicri:noRegion></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><affiliations><list><country><li>Canada</li><li>Israël</li><li>États-Unis</li></country><region><li>Alberta</li><li>Ohio</li><li>Ontario</li><li>Québec</li></region><settlement><li>Calgary</li><li>Montréal</li><li>Toronto</li></settlement><orgName><li>Université McGill</li><li>Université de Calgary</li><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Robitaille, Johane M" sort="Robitaille, Johane M" uniqKey="Robitaille J" first="Johane M" last="Robitaille">Johane M. Robitaille</name></noRegion><name sortKey="Bedard, Karen" sort="Bedard, Karen" uniqKey="Bedard K" first="Karen" last="Bedard">Karen Bedard</name><name sortKey="Ells, Anna" sort="Ells, Anna" uniqKey="Ells A" first="Anna" last="Ells">Anna Ells</name><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><name sortKey="Fernandez, Conrad V" sort="Fernandez, Conrad V" uniqKey="Fernandez C" first="Conrad V" last="Fernandez">Conrad V. Fernandez</name><name sortKey="Gaston, Daniel" sort="Gaston, Daniel" uniqKey="Gaston D" first="Daniel" last="Gaston">Daniel Gaston</name><name sortKey="Gillett, Roxanne M" sort="Gillett, Roxanne M" uniqKey="Gillett R" first="Roxanne M" last="Gillett">Roxanne M. Gillett</name><name sortKey="Hathaway, Julie" sort="Hathaway, Julie" uniqKey="Hathaway J" first="Julie" last="Hathaway">Julie Hathaway</name><name sortKey="Heon, Elise" sort="Heon, Elise" uniqKey="Heon E" first="Elise" last="Héon">Elise Héon</name><name sortKey="Leblanc, Marissa A" sort="Leblanc, Marissa A" uniqKey="Leblanc M" first="Marissa A" last="Leblanc">Marissa A. Leblanc</name><name sortKey="Macgillivray, Christine" sort="Macgillivray, Christine" uniqKey="Macgillivray C" first="Christine" last="Macgillivray">Christine Macgillivray</name><name sortKey="Mackley, Michael P" sort="Mackley, Michael P" uniqKey="Mackley M" first="Michael P" last="Mackley">Michael P. Mackley</name><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><name sortKey="Mcmaster, Christopher R" sort="Mcmaster, Christopher R" uniqKey="Mcmaster C" first="Christopher R" last="Mcmaster">Christopher R. Mcmaster</name><name sortKey="Nightingale, Mathew" sort="Nightingale, Mathew" uniqKey="Nightingale M" first="Mathew" last="Nightingale">Mathew Nightingale</name><name sortKey="Parkash, Sandhya" sort="Parkash, Sandhya" uniqKey="Parkash S" first="Sandhya" last="Parkash">Sandhya Parkash</name><name sortKey="Roy, Melanie" sort="Roy, Melanie" uniqKey="Roy M" first="Mélanie" last="Roy">Mélanie Roy</name><name sortKey="Thomas, Aidan" sort="Thomas, Aidan" uniqKey="Thomas A" first="Aidan" last="Thomas">Aidan Thomas</name><name sortKey="Wallace, Karin" sort="Wallace, Karin" uniqKey="Wallace K" first="Karin" last="Wallace">Karin Wallace</name></country><country name="États-Unis"><region name="Ohio"><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I" last="Traboulsi">Elias I. Traboulsi</name></region></country><country name="Israël"><noRegion><name sortKey="Shalev, Stavit" sort="Shalev, Stavit" uniqKey="Shalev S" first="Stavit" last="Shalev">Stavit Shalev</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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