Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Identifieur interne : 005307 ( Main/Exploration ); précédent : 005306; suivant : 005308Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Auteurs : Peter Huppke [Allemagne] ; Cornelia Brendel [Allemagne] ; Vera Kalscheuer [Allemagne] ; Georg Christoph Korenke [Allemagne] ; Iris Marquardt [Allemagne] ; Peter Freisinger [Allemagne] ; John Christodoulou [Australie] ; Merle Hillebrand [Allemagne] ; Gaele Pitelet [France] ; Callum Wilson [Nouvelle-Zélande] ; Ursula Gruber-Sedlmayr [Autriche] ; Reinhard Ullmann [Allemagne] ; Stefan Haas [Allemagne] ; Orly Elpeleg [Israël] ; Gudrun Nürnberg [Allemagne] ; Peter Nürnberg [Allemagne] ; Shzeena Dad [Danemark] ; Lisbeth Birk M Ller [Danemark] ; Stephen G. Kaler [États-Unis] ; Jutta G Rtner [Allemagne]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in
Url:
DOI: 10.1016/j.ajhg.2011.11.030
PubMed: 22243965
PubMed Central: 3257879
Affiliations:
- Allemagne, Australie, Autriche, Danemark, France, Israël, Nouvelle-Zélande, États-Unis
- Basse-Saxe, Berlin, District de Cologne, Maryland, Nouvelle-Galles du Sud, Rhénanie-du-Nord-Westphalie
- Berlin, Cologne, Göttingen, Sydney
- Université de Sydney
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Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>SLC33A1</italic> Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin</title><author><name sortKey="Huppke, Peter" sort="Huppke, Peter" uniqKey="Huppke P" first="Peter" last="Huppke">Peter Huppke</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Brendel, Cornelia" sort="Brendel, Cornelia" uniqKey="Brendel C" first="Cornelia" last="Brendel">Cornelia Brendel</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><affiliation wicri:level="3"><nlm:aff id="aff2">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Korenke, Georg Christoph" sort="Korenke, Georg Christoph" uniqKey="Korenke G" first="Georg Christoph" last="Korenke">Georg Christoph Korenke</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg</wicri:regionArea><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Marquardt, Iris" sort="Marquardt, Iris" uniqKey="Marquardt I" first="Iris" last="Marquardt">Iris Marquardt</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg</wicri:regionArea><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Freisinger, Peter" sort="Freisinger, Peter" uniqKey="Freisinger P" first="Peter" last="Freisinger">Peter Freisinger</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Pediatrics, Klinikum am Steinenberg, 72764 Reutlingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, Klinikum am Steinenberg, 72764 Reutlingen</wicri:regionArea><wicri:noRegion>72764 Reutlingen</wicri:noRegion><wicri:noRegion>72764 Reutlingen</wicri:noRegion><wicri:noRegion>72764 Reutlingen</wicri:noRegion></affiliation></author><author><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><affiliation wicri:level="4"><nlm:aff id="aff5">Western Sydney Genetics Program, The Children's Hospital at Westmead, and Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, 2145 Westmead, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, The Children's Hospital at Westmead, and Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, 2145 Westmead</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Hillebrand, Merle" sort="Hillebrand, Merle" uniqKey="Hillebrand M" first="Merle" last="Hillebrand">Merle Hillebrand</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Pitelet, Gaele" sort="Pitelet, Gaele" uniqKey="Pitelet G" first="Gaele" last="Pitelet">Gaele Pitelet</name><affiliation wicri:level="1"><nlm:aff id="aff6">Service de Neuropédiatrie, CHU Nice, 6200 Nice, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neuropédiatrie, CHU Nice, 6200 Nice</wicri:regionArea><wicri:noRegion>6200 Nice</wicri:noRegion><wicri:noRegion>6200 Nice</wicri:noRegion></affiliation></author><author><name sortKey="Wilson, Callum" sort="Wilson, Callum" uniqKey="Wilson C" first="Callum" last="Wilson">Callum Wilson</name><affiliation wicri:level="1"><nlm:aff id="aff7">National Metabolic Service, Starship Children's Hospital, 1142 Auckland, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>National Metabolic Service, Starship Children's Hospital, 1142 Auckland</wicri:regionArea><wicri:noRegion>1142 Auckland</wicri:noRegion></affiliation></author><author><name sortKey="Gruber Sedlmayr, Ursula" sort="Gruber Sedlmayr, Ursula" uniqKey="Gruber Sedlmayr U" first="Ursula" last="Gruber-Sedlmayr">Ursula Gruber-Sedlmayr</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Pediatrics, Medical University of Graz, 8010 Graz, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Pediatrics, Medical University of Graz, 8010 Graz</wicri:regionArea><wicri:noRegion>8010 Graz</wicri:noRegion></affiliation></author><author><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name><affiliation wicri:level="3"><nlm:aff id="aff2">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Haas, Stefan" sort="Haas, Stefan" uniqKey="Haas S" first="Stefan" last="Haas">Stefan Haas</name><affiliation wicri:level="3"><nlm:aff id="aff9">Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Elpeleg, Orly" sort="Elpeleg, Orly" uniqKey="Elpeleg O" first="Orly" last="Elpeleg">Orly Elpeleg</name><affiliation wicri:level="1"><nlm:aff id="aff10">Monique and Jacques Roboh Department of Genetic Research, Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, 91050 Jerusalem, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, 91050 Jerusalem</wicri:regionArea><wicri:noRegion>91050 Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><affiliation wicri:level="3"><nlm:aff id="aff11">Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Cologne</settlement></placeName></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="3"><nlm:aff id="aff11">Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Cologne</settlement></placeName></affiliation></author><author><name sortKey="Dad, Shzeena" sort="Dad, Shzeena" uniqKey="Dad S" first="Shzeena" last="Dad">Shzeena Dad</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup</wicri:regionArea><wicri:noRegion>2600 Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="M Ller, Lisbeth Birk" sort="M Ller, Lisbeth Birk" uniqKey="M Ller L" first="Lisbeth Birk" last="M Ller">Lisbeth Birk M Ller</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup</wicri:regionArea><wicri:noRegion>2600 Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="Kaler, Stephen G" sort="Kaler, Stephen G" uniqKey="Kaler S" first="Stephen G." last="Kaler">Stephen G. Kaler</name><affiliation wicri:level="2"><nlm:aff id="aff13">Unit on Human Copper Metabolism, Molecular Medicine Program, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20814, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Unit on Human Copper Metabolism, Molecular Medicine Program, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20814</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="G Rtner, Jutta" sort="G Rtner, Jutta" uniqKey="G Rtner J" first="Jutta" last="G Rtner">Jutta G Rtner</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22243965</idno><idno type="pmc">3257879</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257879</idno><idno type="RBID">PMC:3257879</idno><idno type="doi">10.1016/j.ajhg.2011.11.030</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001700</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001700</idno><idno type="wicri:Area/Pmc/Curation">001560</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001560</idno><idno type="wicri:Area/Pmc/Checkpoint">001E38</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001E38</idno><idno 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Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Brendel, Cornelia" sort="Brendel, Cornelia" uniqKey="Brendel C" first="Cornelia" last="Brendel">Cornelia Brendel</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><affiliation wicri:level="3"><nlm:aff id="aff2">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Korenke, Georg Christoph" sort="Korenke, Georg Christoph" uniqKey="Korenke G" first="Georg Christoph" last="Korenke">Georg Christoph Korenke</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg</wicri:regionArea><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Marquardt, Iris" sort="Marquardt, Iris" uniqKey="Marquardt I" first="Iris" last="Marquardt">Iris Marquardt</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Children's Hospital, 26133 Oldenburg</wicri:regionArea><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion><wicri:noRegion>26133 Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Freisinger, Peter" sort="Freisinger, Peter" uniqKey="Freisinger P" first="Peter" last="Freisinger">Peter Freisinger</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Pediatrics, Klinikum am Steinenberg, 72764 Reutlingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, Klinikum am Steinenberg, 72764 Reutlingen</wicri:regionArea><wicri:noRegion>72764 Reutlingen</wicri:noRegion><wicri:noRegion>72764 Reutlingen</wicri:noRegion><wicri:noRegion>72764 Reutlingen</wicri:noRegion></affiliation></author><author><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><affiliation wicri:level="4"><nlm:aff id="aff5">Western Sydney Genetics Program, The Children's Hospital at Westmead, and Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, 2145 Westmead, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, The Children's Hospital at Westmead, and Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, 2145 Westmead</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Hillebrand, Merle" sort="Hillebrand, Merle" uniqKey="Hillebrand M" first="Merle" last="Hillebrand">Merle Hillebrand</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Pitelet, Gaele" sort="Pitelet, Gaele" uniqKey="Pitelet G" first="Gaele" last="Pitelet">Gaele Pitelet</name><affiliation wicri:level="1"><nlm:aff id="aff6">Service de Neuropédiatrie, CHU Nice, 6200 Nice, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neuropédiatrie, CHU Nice, 6200 Nice</wicri:regionArea><wicri:noRegion>6200 Nice</wicri:noRegion><wicri:noRegion>6200 Nice</wicri:noRegion></affiliation></author><author><name sortKey="Wilson, Callum" sort="Wilson, Callum" uniqKey="Wilson C" first="Callum" last="Wilson">Callum Wilson</name><affiliation wicri:level="1"><nlm:aff id="aff7">National Metabolic Service, Starship Children's Hospital, 1142 Auckland, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>National Metabolic Service, Starship Children's Hospital, 1142 Auckland</wicri:regionArea><wicri:noRegion>1142 Auckland</wicri:noRegion></affiliation></author><author><name sortKey="Gruber Sedlmayr, Ursula" sort="Gruber Sedlmayr, Ursula" uniqKey="Gruber Sedlmayr U" first="Ursula" last="Gruber-Sedlmayr">Ursula Gruber-Sedlmayr</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Pediatrics, Medical University of Graz, 8010 Graz, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Pediatrics, Medical University of Graz, 8010 Graz</wicri:regionArea><wicri:noRegion>8010 Graz</wicri:noRegion></affiliation></author><author><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name><affiliation wicri:level="3"><nlm:aff id="aff2">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Haas, Stefan" sort="Haas, Stefan" uniqKey="Haas S" first="Stefan" last="Haas">Stefan Haas</name><affiliation wicri:level="3"><nlm:aff id="aff9">Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Elpeleg, Orly" sort="Elpeleg, Orly" uniqKey="Elpeleg O" first="Orly" last="Elpeleg">Orly Elpeleg</name><affiliation wicri:level="1"><nlm:aff id="aff10">Monique and Jacques Roboh Department of Genetic Research, Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, 91050 Jerusalem, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Monique and Jacques Roboh Department of Genetic Research, Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, 91050 Jerusalem</wicri:regionArea><wicri:noRegion>91050 Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><affiliation wicri:level="3"><nlm:aff id="aff11">Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Cologne</settlement></placeName></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="3"><nlm:aff id="aff11">Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Cologne</settlement></placeName></affiliation></author><author><name sortKey="Dad, Shzeena" sort="Dad, Shzeena" uniqKey="Dad S" first="Shzeena" last="Dad">Shzeena Dad</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup</wicri:regionArea><wicri:noRegion>2600 Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="M Ller, Lisbeth Birk" sort="M Ller, Lisbeth Birk" uniqKey="M Ller L" first="Lisbeth Birk" last="M Ller">Lisbeth Birk M Ller</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Department for Applied Human Molecular Genetics Kennedy Center, 2600 Glostrup</wicri:regionArea><wicri:noRegion>2600 Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="Kaler, Stephen G" sort="Kaler, Stephen G" uniqKey="Kaler S" first="Stephen G." last="Kaler">Stephen G. Kaler</name><affiliation wicri:level="2"><nlm:aff id="aff13">Unit on Human Copper Metabolism, Molecular Medicine Program, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20814, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Unit on Human Copper Metabolism, Molecular Medicine Program, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20814</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="G Rtner, Jutta" sort="G Rtner, Jutta" uniqKey="G Rtner J" first="Jutta" last="G Rtner">Jutta G Rtner</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics and Pediatric Neurology, Georg August University, 37075 Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in <italic>SLC33A1</italic> encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization of the protein. We also showed that AT-1 knockdown in HepG2 cells leads to reduced ceruloplasmin secretion, indicating that the low copper in serum is due to reduced ceruloplasmin levels and is not a sign of copper deficiency. The severity of the phenotype implies an essential role of AT-1 in proper posttranslational modification of numerous proteins, without which normal lens and brain development is interrupted. Furthermore, AT-1 defects are a new and important differential diagnosis in patients with low copper and ceruloplasmin in serum.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Autriche</li><li>Danemark</li><li>France</li><li>Israël</li><li>Nouvelle-Zélande</li><li>États-Unis</li></country><region><li>Basse-Saxe</li><li>Berlin</li><li>District de Cologne</li><li>Maryland</li><li>Nouvelle-Galles du Sud</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Berlin</li><li>Cologne</li><li>Göttingen</li><li>Sydney</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Huppke, Peter" sort="Huppke, Peter" uniqKey="Huppke P" first="Peter" last="Huppke">Peter Huppke</name></region><name sortKey="Brendel, Cornelia" sort="Brendel, Cornelia" uniqKey="Brendel C" first="Cornelia" last="Brendel">Cornelia Brendel</name><name sortKey="Freisinger, Peter" sort="Freisinger, Peter" uniqKey="Freisinger P" first="Peter" last="Freisinger">Peter Freisinger</name><name sortKey="G Rtner, Jutta" sort="G Rtner, Jutta" uniqKey="G Rtner J" first="Jutta" last="G Rtner">Jutta G Rtner</name><name sortKey="Haas, Stefan" sort="Haas, Stefan" uniqKey="Haas S" first="Stefan" last="Haas">Stefan Haas</name><name sortKey="Hillebrand, Merle" sort="Hillebrand, Merle" uniqKey="Hillebrand M" first="Merle" last="Hillebrand">Merle Hillebrand</name><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><name sortKey="Korenke, Georg Christoph" sort="Korenke, Georg Christoph" uniqKey="Korenke G" first="Georg Christoph" last="Korenke">Georg Christoph Korenke</name><name sortKey="Marquardt, Iris" sort="Marquardt, Iris" uniqKey="Marquardt I" first="Iris" last="Marquardt">Iris Marquardt</name><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name></region></country><country name="France"><noRegion><name sortKey="Pitelet, Gaele" sort="Pitelet, Gaele" uniqKey="Pitelet G" first="Gaele" last="Pitelet">Gaele Pitelet</name></noRegion></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Wilson, Callum" sort="Wilson, Callum" uniqKey="Wilson C" first="Callum" last="Wilson">Callum Wilson</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Gruber Sedlmayr, Ursula" sort="Gruber Sedlmayr, Ursula" uniqKey="Gruber Sedlmayr U" first="Ursula" last="Gruber-Sedlmayr">Ursula Gruber-Sedlmayr</name></noRegion></country><country name="Israël"><noRegion><name sortKey="Elpeleg, Orly" sort="Elpeleg, Orly" uniqKey="Elpeleg O" first="Orly" last="Elpeleg">Orly Elpeleg</name></noRegion></country><country name="Danemark"><noRegion><name sortKey="Dad, Shzeena" sort="Dad, Shzeena" uniqKey="Dad S" first="Shzeena" last="Dad">Shzeena Dad</name></noRegion><name sortKey="M Ller, Lisbeth Birk" sort="M Ller, Lisbeth Birk" uniqKey="M Ller L" first="Lisbeth Birk" last="M Ller">Lisbeth Birk M Ller</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Kaler, Stephen G" sort="Kaler, Stephen G" uniqKey="Kaler S" first="Stephen G." last="Kaler">Stephen G. Kaler</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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