Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Identifieur interne : 001D22 ( Main/Exploration ); précédent : 001D21; suivant : 001D23Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Auteurs : Lyndal Henden [Australie] ; Saskia Freytag [Australie] ; Zaid Afawi [Israël] ; Sara Baldassari [Italie] ; Samuel F. Berkovic [Australie] ; Francesca Bisulli [Italie] ; Laura Canafoglia [Italie] ; Giorgio Casari [Italie] ; Douglas Ewan Crompton [Australie] ; Christel Depienne [France] ; Jozef Gecz [Australie] ; Renzo Guerrini [Italie] ; Ingo Helbig [Allemagne] ; Edouard Hirsch [France] ; Boris Keren [France] ; Karl Martin Klein [Allemagne] ; Pierre Labauge [France] ; Eric Leguern [France] ; Laura Licchetta [Italie] ; Davide Mei [Italie] ; Caroline Nava [France] ; Tommaso Pippucci [Italie] ; Gabrielle Rudolf [France] ; Ingrid Eileen Scheffer [Australie] ; Pasquale Striano [Italie] ; Paolo Tinuper [Italie] ; Federico Zara [Italie] ; Mark Corbett [Australie] ; Melanie Bahlo [Australie]Source :
- Human genetics [ 1432-1203 ] ; 2016.
Descripteurs français
- KwdFr :
- Allèles, Cartographie chromosomique, Chromosomes humains de la paire 2, Crises épileptiques (génétique), Crises épileptiques (physiopathologie), Effet fondateur, Femelle, Génotype, Humains, Hétérogénéité génétique, Liaison génétique, Muscles lisses (physiopathologie), Mâle, Pedigree, Polymorphisme de nucléotide simple, Épilepsies myocloniques (génétique), Épilepsies myocloniques (physiopathologie).
- MESH :
- génétique : Crises épileptiques, Épilepsies myocloniques.
- physiopathologie : Crises épileptiques, Muscles lisses, Épilepsies myocloniques.
- Allèles, Cartographie chromosomique, Chromosomes humains de la paire 2, Effet fondateur, Femelle, Génotype, Humains, Hétérogénéité génétique, Liaison génétique, Mâle, Pedigree, Polymorphisme de nucléotide simple.
English descriptors
- KwdEn :
- Alleles, Chromosome Mapping, Chromosomes, Human, Pair 2, Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Female, Founder Effect, Genetic Heterogeneity, Genetic Linkage, Genotype, Humans, Male, Muscle, Smooth (physiopathology), Pedigree, Polymorphism, Single Nucleotide, Seizures (genetics), Seizures (physiopathology).
- MESH :
- genetics : Epilepsies, Myoclonic, Seizures.
- physiopathology : Epilepsies, Myoclonic, Muscle, Smooth, Seizures.
- Alleles, Chromosome Mapping, Chromosomes, Human, Pair 2, Female, Founder Effect, Genetic Heterogeneity, Genetic Linkage, Genotype, Humans, Male, Pedigree, Polymorphism, Single Nucleotide.
Abstract
Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.
DOI: 10.1007/s00439-016-1700-8
PubMed: 27368338
Affiliations:
- Allemagne, Australie, France, Israël, Italie
- Alsace (région administrative), District de Darmstadt, Grand Est, Hesse (Land), Lombardie, Île-de-France
- Francfort-sur-le-Main, Milan, Paris, Strasbourg
- Université de Strasbourg
Links toward previous steps (curation, corpus...)
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Le document en format XML
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Besta Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. 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type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea><wicri:noRegion>5005</wicri:noRegion></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein</wicri:regionArea><wicri:noRegion>Schleswig-Holstein</wicri:noRegion><wicri:noRegion>Schleswig-Holstein</wicri:noRegion><wicri:noRegion>Schleswig-Holstein</wicri:noRegion></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation wicri:level="3"><nlm:affiliation>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Klein, Karl Martin" sort="Klein, Karl Martin" uniqKey="Klein K" first="Karl Martin" last="Klein">Karl Martin Klein</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Darmstadt</region><settlement type="city">Francfort-sur-le-Main</settlement></placeName></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5</wicri:regionArea><wicri:noRegion>Cedex 5</wicri:noRegion><wicri:noRegion>Cedex 5</wicri:noRegion></affiliation></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><affiliation wicri:level="3"><nlm:affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="4"><nlm:affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><orgName type="university">Université de Strasbourg</orgName><placeName><settlement type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName></affiliation></author><author><name sortKey="Scheffer, Ingrid Eileen" sort="Scheffer, Ingrid Eileen" uniqKey="Scheffer I" first="Ingrid Eileen" last="Scheffer">Ingrid Eileen Scheffer</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084</wicri:regionArea><wicri:noRegion>3084</wicri:noRegion></affiliation></author><author><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea><wicri:noRegion>5005</wicri:noRegion></affiliation></author><author><name sortKey="Bahlo, Melanie" sort="Bahlo, Melanie" uniqKey="Bahlo M" first="Melanie" last="Bahlo">Melanie Bahlo</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia. bahlo@wehi.edu.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea><wicri:noRegion>3052</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27368338</idno><idno type="pmid">27368338</idno><idno type="doi">10.1007/s00439-016-1700-8</idno><idno type="wicri:Area/PubMed/Corpus">001754</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001754</idno><idno type="wicri:Area/PubMed/Curation">001731</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001731</idno><idno type="wicri:Area/PubMed/Checkpoint">001731</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001731</idno><idno type="wicri:Area/Ncbi/Merge">003789</idno><idno type="wicri:Area/Ncbi/Curation">003789</idno><idno type="wicri:Area/Ncbi/Checkpoint">003789</idno><idno type="wicri:Area/Main/Merge">001D19</idno><idno type="wicri:Area/Main/Curation">001D22</idno><idno type="wicri:Area/Main/Exploration">001D22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.</title><author><name sortKey="Henden, Lyndal" sort="Henden, Lyndal" uniqKey="Henden L" first="Lyndal" last="Henden">Lyndal Henden</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea><wicri:noRegion>3052</wicri:noRegion></affiliation></author><author><name sortKey="Freytag, Saskia" sort="Freytag, Saskia" uniqKey="Freytag S" first="Saskia" last="Freytag">Saskia Freytag</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea><wicri:noRegion>3052</wicri:noRegion></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation wicri:level="1"><nlm:affiliation>Tel Aviv University Medical School, 69978, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Tel Aviv University Medical School, 69978, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Baldassari, Sara" sort="Baldassari, Sara" uniqKey="Baldassari S" first="Sara" last="Baldassari">Sara Baldassari</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084</wicri:regionArea><wicri:noRegion>3084</wicri:noRegion></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:affiliation>Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><affiliation wicri:level="3"><nlm:affiliation>Division of Genetics and Cell Biology, Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Genetics and Cell Biology, Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Crompton, Douglas Ewan" sort="Crompton, Douglas Ewan" uniqKey="Crompton D" first="Douglas Ewan" last="Crompton">Douglas Ewan Crompton</name><affiliation wicri:level="1"><nlm:affiliation>Neurology Department, Northern Health, Melbourne, VIC, 3076, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Neurology Department, Northern Health, Melbourne, VIC, 3076</wicri:regionArea><wicri:noRegion>3076</wicri:noRegion></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="4"><nlm:affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><orgName type="university">Université de Strasbourg</orgName><placeName><settlement type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea><wicri:noRegion>5005</wicri:noRegion></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein</wicri:regionArea><wicri:noRegion>Schleswig-Holstein</wicri:noRegion><wicri:noRegion>Schleswig-Holstein</wicri:noRegion><wicri:noRegion>Schleswig-Holstein</wicri:noRegion></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation wicri:level="3"><nlm:affiliation>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Klein, Karl Martin" sort="Klein, Karl Martin" uniqKey="Klein K" first="Karl Martin" last="Klein">Karl Martin Klein</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Darmstadt</region><settlement type="city">Francfort-sur-le-Main</settlement></placeName></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5</wicri:regionArea><wicri:noRegion>Cedex 5</wicri:noRegion><wicri:noRegion>Cedex 5</wicri:noRegion></affiliation></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><affiliation wicri:level="3"><nlm:affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="4"><nlm:affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><orgName type="university">Université de Strasbourg</orgName><placeName><settlement type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName></affiliation></author><author><name sortKey="Scheffer, Ingrid Eileen" sort="Scheffer, Ingrid Eileen" uniqKey="Scheffer I" first="Ingrid Eileen" last="Scheffer">Ingrid Eileen Scheffer</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084</wicri:regionArea><wicri:noRegion>3084</wicri:noRegion></affiliation></author><author><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea><wicri:noRegion>5005</wicri:noRegion></affiliation></author><author><name sortKey="Bahlo, Melanie" sort="Bahlo, Melanie" uniqKey="Bahlo M" first="Melanie" last="Bahlo">Melanie Bahlo</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia. bahlo@wehi.edu.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea><wicri:noRegion>3052</wicri:noRegion></affiliation></author></analytic><series><title level="j">Human genetics</title><idno type="eISSN">1432-1203</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 2</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Female</term><term>Founder Effect</term><term>Genetic Heterogeneity</term><term>Genetic Linkage</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Muscle, Smooth (physiopathology)</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide</term><term>Seizures (genetics)</term><term>Seizures (physiopathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Allèles</term><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 2</term><term>Crises épileptiques (génétique)</term><term>Crises épileptiques (physiopathologie)</term><term>Effet fondateur</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Liaison génétique</term><term>Muscles lisses (physiopathologie)</term><term>Mâle</term><term>Pedigree</term><term>Polymorphisme de nucléotide simple</term><term>Épilepsies myocloniques (génétique)</term><term>Épilepsies myocloniques (physiopathologie)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Seizures</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Crises épileptiques</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Crises épileptiques</term><term>Muscles lisses</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Muscle, Smooth</term><term>Seizures</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 2</term><term>Female</term><term>Founder Effect</term><term>Genetic Heterogeneity</term><term>Genetic Linkage</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Allèles</term><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 2</term><term>Effet fondateur</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Liaison génétique</term><term>Mâle</term><term>Pedigree</term><term>Polymorphisme de nucléotide simple</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Israël</li><li>Italie</li></country><region><li>Alsace (région administrative)</li><li>District de Darmstadt</li><li>Grand Est</li><li>Hesse (Land)</li><li>Lombardie</li><li>Île-de-France</li></region><settlement><li>Francfort-sur-le-Main</li><li>Milan</li><li>Paris</li><li>Strasbourg</li></settlement><orgName><li>Université de Strasbourg</li></orgName></list><tree><country name="Australie"><noRegion><name sortKey="Henden, Lyndal" sort="Henden, Lyndal" uniqKey="Henden L" first="Lyndal" last="Henden">Lyndal Henden</name></noRegion><name sortKey="Bahlo, Melanie" sort="Bahlo, Melanie" uniqKey="Bahlo M" first="Melanie" last="Bahlo">Melanie Bahlo</name><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><name sortKey="Crompton, Douglas Ewan" sort="Crompton, Douglas Ewan" uniqKey="Crompton D" first="Douglas Ewan" last="Crompton">Douglas Ewan Crompton</name><name sortKey="Freytag, Saskia" sort="Freytag, Saskia" uniqKey="Freytag S" first="Saskia" last="Freytag">Saskia Freytag</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><name sortKey="Scheffer, Ingrid Eileen" sort="Scheffer, Ingrid Eileen" uniqKey="Scheffer I" first="Ingrid Eileen" last="Scheffer">Ingrid Eileen Scheffer</name></country><country name="Israël"><noRegion><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Baldassari, Sara" sort="Baldassari, Sara" uniqKey="Baldassari S" first="Sara" last="Baldassari">Sara Baldassari</name></noRegion><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name></country><country name="France"><region name="Grand Est"><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name></region><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name></country><country name="Allemagne"><noRegion><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name></noRegion><name sortKey="Klein, Karl Martin" sort="Klein, Karl Martin" uniqKey="Klein K" first="Karl Martin" last="Klein">Karl Martin Klein</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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