Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Identifieur interne : 002B09 ( Main/Exploration ); précédent : 002B08; suivant : 002B10Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Auteurs : Fanny Kortüm [Allemagne] ; Viviana Caputo [Italie] ; Christiane K. Bauer [Allemagne] ; Lorenzo Stella [Italie] ; Andrea Ciolfi [Italie] ; Malik Alawi [Allemagne] ; Gianfranco Bocchinfuso [Italie] ; Elisabetta Flex [Italie] ; Stefano Paolacci [Italie] ; Maria Lisa Dentici [Italie] ; Paola Grammatico [Italie] ; Georg Christoph Korenke [Allemagne] ; Vincenzo Leuzzi [Italie] ; David Mowat [Australie] ; Lal D V. Nair [Inde] ; Thi Tuyet Mai Nguyen [Canada] ; Patrick Thierry [France] ; Susan M. White [Australie] ; Bruno Dallapiccola [Italie] ; Antonio Pizzuti [Italie] ; Philippe M. Campeau [Canada] ; Marco Tartaglia [Italie] ; Kerstin Kutsche [Allemagne]Source :
- Nature genetics [ 1546-1718 ] ; 2015.
Descripteurs français
- KwdFr :
- Animaux, Anomalies morphologiques congénitales de la main (génétique), Canaux potassiques éther-à-go-go (génétique), Cellules CHO, Codon non-sens, Conformation des protéines, Cricetinae, Cricetulus, Femelle, Fibromatose gingivale (génétique), Humains, Malformations crâniofaciales (génétique), Malformations multiples (génétique), Modèles moléculaires, Mutation faux-sens, Mâle, Pedigree, Potentiels de membrane, Vacuolar Proton-Translocating ATPases (génétique), Xenopus laevis, Études d'associations génétiques.
- MESH :
- génétique : Anomalies morphologiques congénitales de la main, Canaux potassiques éther-à-go-go, Fibromatose gingivale, Malformations crâniofaciales, Malformations multiples, Vacuolar Proton-Translocating ATPases.
- Animaux, Cellules CHO, Codon non-sens, Conformation des protéines, Cricetinae, Cricetulus, Femelle, Humains, Modèles moléculaires, Mutation faux-sens, Mâle, Pedigree, Potentiels de membrane, Xenopus laevis, Études d'associations génétiques.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Animals, CHO Cells, Codon, Nonsense, Craniofacial Abnormalities (genetics), Cricetinae, Cricetulus, Ether-A-Go-Go Potassium Channels (genetics), Female, Fibromatosis, Gingival (genetics), Genetic Association Studies, Hand Deformities, Congenital (genetics), Humans, Male, Membrane Potentials, Models, Molecular, Mutation, Missense, Pedigree, Protein Conformation, Vacuolar Proton-Translocating ATPases (genetics), Xenopus laevis.
- MESH :
- chemical , genetics : Ether-A-Go-Go Potassium Channels, Vacuolar Proton-Translocating ATPases.
- chemical : Codon, Nonsense.
- genetics : Abnormalities, Multiple, Craniofacial Abnormalities, Fibromatosis, Gingival, Hand Deformities, Congenital.
- Animals, CHO Cells, Cricetinae, Cricetulus, Female, Genetic Association Studies, Humans, Male, Membrane Potentials, Models, Molecular, Mutation, Missense, Pedigree, Protein Conformation, Xenopus laevis.
Abstract
Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.
DOI: 10.1038/ng.3282
PubMed: 25915598
Affiliations:
- Allemagne, Australie, Canada, France, Inde, Italie
- Bourgogne-Franche-Comté, Franche-Comté, Hambourg, Latium, Victoria (État)
- Hambourg, Melbourne, Rome, Vesoul
- Université de Melbourne, Université de Rome « La Sapienza »
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Le document en format XML
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[2] Center for Bioinformatics, University of Hamburg, Hamburg, Germany. [3] Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany. [2] Center for Bioinformatics, University of Hamburg, Hamburg, Germany. [3] Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Bocchinfuso, Gianfranco" sort="Bocchinfuso, Gianfranco" uniqKey="Bocchinfuso G" first="Gianfranco" last="Bocchinfuso">Gianfranco Bocchinfuso</name><affiliation wicri:level="3"><nlm:affiliation>Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Flex, Elisabetta" sort="Flex, Elisabetta" uniqKey="Flex E" first="Elisabetta" last="Flex">Elisabetta Flex</name><affiliation wicri:level="3"><nlm:affiliation>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Paolacci, Stefano" sort="Paolacci, Stefano" uniqKey="Paolacci S" first="Stefano" last="Paolacci">Stefano Paolacci</name><affiliation wicri:level="4"><nlm:affiliation>1] Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy. [2] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>1] Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy. [2] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Dentici, Maria Lisa" sort="Dentici, Maria Lisa" uniqKey="Dentici M" first="Maria Lisa" last="Dentici">Maria Lisa Dentici</name><affiliation wicri:level="3"><nlm:affiliation>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Grammatico, Paola" sort="Grammatico, Paola" uniqKey="Grammatico P" first="Paola" last="Grammatico">Paola Grammatico</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Medicina Molecolare, Università La Sapienza, Ospedale San Camillo-Forlanini, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Medicina Molecolare, Università La Sapienza, Ospedale San Camillo-Forlanini, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></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:affiliation>Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg</wicri:regionArea><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Leuzzi, Vincenzo" sort="Leuzzi, Vincenzo" uniqKey="Leuzzi V" first="Vincenzo" last="Leuzzi">Vincenzo Leuzzi</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Pediatria e Neuropsichiatria Infantile, Università La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Pediatria e Neuropsichiatria Infantile, Università La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. [2] School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>1] Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. [2] School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Nair, Lal D V" sort="Nair, Lal D V" uniqKey="Nair L" first="Lal D V" last="Nair">Lal D V. Nair</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai</wicri:regionArea><wicri:noRegion>Chennai</wicri:noRegion></affiliation></author><author><name sortKey="Nguyen, Thi Tuyet Mai" sort="Nguyen, Thi Tuyet Mai" uniqKey="Nguyen T" first="Thi Tuyet Mai" last="Nguyen">Thi Tuyet Mai Nguyen</name><affiliation wicri:level="1"><nlm:affiliation>Sainte-Justine Hospital Research Center, University of Montreal, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Sainte-Justine Hospital Research Center, University of Montreal, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Thierry, Patrick" sort="Thierry, Patrick" uniqKey="Thierry P" first="Patrick" last="Thierry">Patrick Thierry</name><affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie, Centre Hospitalier Intercommunal de la Haute-Saône, Vesoul, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Centre Hospitalier Intercommunal de la Haute-Saône, Vesoul</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Vesoul</settlement></placeName></affiliation></author><author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name><affiliation wicri:level="4"><nlm:affiliation>1] Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>1] Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><nlm:affiliation>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Campeau, Philippe M" sort="Campeau, Philippe M" uniqKey="Campeau P" first="Philippe M" last="Campeau">Philippe M. Campeau</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation wicri:level="3"><nlm:affiliation>1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2] Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2] Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Kutsche, Kerstin" sort="Kutsche, Kerstin" uniqKey="Kutsche K" first="Kerstin" last="Kutsche">Kerstin Kutsche</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25915598</idno><idno type="pmid">25915598</idno><idno type="doi">10.1038/ng.3282</idno><idno type="wicri:Area/PubMed/Corpus">002D23</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002D23</idno><idno type="wicri:Area/PubMed/Curation">002C48</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002C48</idno><idno type="wicri:Area/PubMed/Checkpoint">002C48</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002C48</idno><idno type="wicri:Area/Ncbi/Merge">002504</idno><idno type="wicri:Area/Ncbi/Curation">002504</idno><idno type="wicri:Area/Ncbi/Checkpoint">002504</idno><idno type="wicri:Area/Main/Merge">002B09</idno><idno type="wicri:Area/Main/Curation">002B09</idno><idno type="wicri:Area/Main/Exploration">002B09</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.</title><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Bauer, Christiane K" sort="Bauer, Christiane K" uniqKey="Bauer C" first="Christiane K" last="Bauer">Christiane K. Bauer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Stella, Lorenzo" sort="Stella, Lorenzo" uniqKey="Stella L" first="Lorenzo" last="Stella">Lorenzo Stella</name><affiliation wicri:level="3"><nlm:affiliation>Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ciolfi, Andrea" sort="Ciolfi, Andrea" uniqKey="Ciolfi A" first="Andrea" last="Ciolfi">Andrea Ciolfi</name><affiliation wicri:level="3"><nlm:affiliation>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Alawi, Malik" sort="Alawi, Malik" uniqKey="Alawi M" first="Malik" last="Alawi">Malik Alawi</name><affiliation wicri:level="3"><nlm:affiliation>1] University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany. [2] Center for Bioinformatics, University of Hamburg, Hamburg, Germany. [3] Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany. [2] Center for Bioinformatics, University of Hamburg, Hamburg, Germany. [3] Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Bocchinfuso, Gianfranco" sort="Bocchinfuso, Gianfranco" uniqKey="Bocchinfuso G" first="Gianfranco" last="Bocchinfuso">Gianfranco Bocchinfuso</name><affiliation wicri:level="3"><nlm:affiliation>Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Flex, Elisabetta" sort="Flex, Elisabetta" uniqKey="Flex E" first="Elisabetta" last="Flex">Elisabetta Flex</name><affiliation wicri:level="3"><nlm:affiliation>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Paolacci, Stefano" sort="Paolacci, Stefano" uniqKey="Paolacci S" first="Stefano" last="Paolacci">Stefano Paolacci</name><affiliation wicri:level="4"><nlm:affiliation>1] Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy. [2] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>1] Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy. [2] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Dentici, Maria Lisa" sort="Dentici, Maria Lisa" uniqKey="Dentici M" first="Maria Lisa" last="Dentici">Maria Lisa Dentici</name><affiliation wicri:level="3"><nlm:affiliation>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Grammatico, Paola" sort="Grammatico, Paola" uniqKey="Grammatico P" first="Paola" last="Grammatico">Paola Grammatico</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Medicina Molecolare, Università La Sapienza, Ospedale San Camillo-Forlanini, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Medicina Molecolare, Università La Sapienza, Ospedale San Camillo-Forlanini, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></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:affiliation>Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg</wicri:regionArea><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Leuzzi, Vincenzo" sort="Leuzzi, Vincenzo" uniqKey="Leuzzi V" first="Vincenzo" last="Leuzzi">Vincenzo Leuzzi</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Pediatria e Neuropsichiatria Infantile, Università La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Pediatria e Neuropsichiatria Infantile, Università La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. [2] School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>1] Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. [2] School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Nair, Lal D V" sort="Nair, Lal D V" uniqKey="Nair L" first="Lal D V" last="Nair">Lal D V. Nair</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai</wicri:regionArea><wicri:noRegion>Chennai</wicri:noRegion></affiliation></author><author><name sortKey="Nguyen, Thi Tuyet Mai" sort="Nguyen, Thi Tuyet Mai" uniqKey="Nguyen T" first="Thi Tuyet Mai" last="Nguyen">Thi Tuyet Mai Nguyen</name><affiliation wicri:level="1"><nlm:affiliation>Sainte-Justine Hospital Research Center, University of Montreal, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Sainte-Justine Hospital Research Center, University of Montreal, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Thierry, Patrick" sort="Thierry, Patrick" uniqKey="Thierry P" first="Patrick" last="Thierry">Patrick Thierry</name><affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie, Centre Hospitalier Intercommunal de la Haute-Saône, Vesoul, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Centre Hospitalier Intercommunal de la Haute-Saône, Vesoul</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Vesoul</settlement></placeName></affiliation></author><author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name><affiliation wicri:level="4"><nlm:affiliation>1] Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>1] Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><nlm:affiliation>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><affiliation wicri:level="4"><nlm:affiliation>Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region><settlement type="city">Rome</settlement></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Campeau, Philippe M" sort="Campeau, Philippe M" uniqKey="Campeau P" first="Philippe M" last="Campeau">Philippe M. Campeau</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation wicri:level="3"><nlm:affiliation>1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2] Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2] Ospedale Pediatrico Bambino Gesù-Istituto di Ricovero e Cura a Carattere Scientifico, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Kutsche, Kerstin" sort="Kutsche, Kerstin" uniqKey="Kutsche K" first="Kerstin" last="Kutsche">Kerstin Kutsche</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Animals</term><term>CHO Cells</term><term>Codon, Nonsense</term><term>Craniofacial Abnormalities (genetics)</term><term>Cricetinae</term><term>Cricetulus</term><term>Ether-A-Go-Go Potassium Channels (genetics)</term><term>Female</term><term>Fibromatosis, Gingival (genetics)</term><term>Genetic Association Studies</term><term>Hand Deformities, Congenital (genetics)</term><term>Humans</term><term>Male</term><term>Membrane Potentials</term><term>Models, Molecular</term><term>Mutation, Missense</term><term>Pedigree</term><term>Protein Conformation</term><term>Vacuolar Proton-Translocating ATPases (genetics)</term><term>Xenopus laevis</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Anomalies morphologiques congénitales de la main (génétique)</term><term>Canaux potassiques éther-à-go-go (génétique)</term><term>Cellules CHO</term><term>Codon non-sens</term><term>Conformation des protéines</term><term>Cricetinae</term><term>Cricetulus</term><term>Femelle</term><term>Fibromatose gingivale (génétique)</term><term>Humains</term><term>Malformations crâniofaciales (génétique)</term><term>Malformations multiples (génétique)</term><term>Modèles moléculaires</term><term>Mutation faux-sens</term><term>Mâle</term><term>Pedigree</term><term>Potentiels de membrane</term><term>Vacuolar Proton-Translocating ATPases (génétique)</term><term>Xenopus laevis</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ether-A-Go-Go Potassium Channels</term><term>Vacuolar Proton-Translocating ATPases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Craniofacial Abnormalities</term><term>Fibromatosis, Gingival</term><term>Hand Deformities, Congenital</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term><term>Canaux potassiques éther-à-go-go</term><term>Fibromatose gingivale</term><term>Malformations crâniofaciales</term><term>Malformations multiples</term><term>Vacuolar Proton-Translocating ATPases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>CHO Cells</term><term>Cricetinae</term><term>Cricetulus</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Membrane Potentials</term><term>Models, Molecular</term><term>Mutation, Missense</term><term>Pedigree</term><term>Protein Conformation</term><term>Xenopus laevis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Cellules CHO</term><term>Codon non-sens</term><term>Conformation des protéines</term><term>Cricetinae</term><term>Cricetulus</term><term>Femelle</term><term>Humains</term><term>Modèles moléculaires</term><term>Mutation faux-sens</term><term>Mâle</term><term>Pedigree</term><term>Potentiels de membrane</term><term>Xenopus laevis</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>Inde</li><li>Italie</li></country><region><li>Bourgogne-Franche-Comté</li><li>Franche-Comté</li><li>Hambourg</li><li>Latium</li><li>Victoria (État)</li></region><settlement><li>Hambourg</li><li>Melbourne</li><li>Rome</li><li>Vesoul</li></settlement><orgName><li>Université de Melbourne</li><li>Université de Rome « La Sapienza »</li></orgName></list><tree><country name="Allemagne"><region name="Hambourg"><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name></region><name sortKey="Alawi, Malik" sort="Alawi, Malik" uniqKey="Alawi M" first="Malik" last="Alawi">Malik Alawi</name><name sortKey="Bauer, Christiane K" sort="Bauer, Christiane K" uniqKey="Bauer C" first="Christiane K" last="Bauer">Christiane K. Bauer</name><name sortKey="Korenke, Georg Christoph" sort="Korenke, Georg Christoph" uniqKey="Korenke G" first="Georg Christoph" last="Korenke">Georg Christoph Korenke</name><name sortKey="Kutsche, Kerstin" sort="Kutsche, Kerstin" uniqKey="Kutsche K" first="Kerstin" last="Kutsche">Kerstin Kutsche</name></country><country name="Italie"><region name="Latium"><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name></region><name sortKey="Bocchinfuso, Gianfranco" sort="Bocchinfuso, Gianfranco" uniqKey="Bocchinfuso G" first="Gianfranco" last="Bocchinfuso">Gianfranco Bocchinfuso</name><name sortKey="Ciolfi, Andrea" sort="Ciolfi, Andrea" uniqKey="Ciolfi A" first="Andrea" last="Ciolfi">Andrea Ciolfi</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Dentici, Maria Lisa" sort="Dentici, Maria Lisa" uniqKey="Dentici M" first="Maria Lisa" last="Dentici">Maria Lisa Dentici</name><name sortKey="Flex, Elisabetta" sort="Flex, Elisabetta" uniqKey="Flex E" first="Elisabetta" last="Flex">Elisabetta Flex</name><name sortKey="Grammatico, Paola" sort="Grammatico, Paola" uniqKey="Grammatico P" first="Paola" last="Grammatico">Paola Grammatico</name><name sortKey="Leuzzi, Vincenzo" sort="Leuzzi, Vincenzo" uniqKey="Leuzzi V" first="Vincenzo" last="Leuzzi">Vincenzo Leuzzi</name><name sortKey="Paolacci, Stefano" sort="Paolacci, Stefano" uniqKey="Paolacci S" first="Stefano" last="Paolacci">Stefano Paolacci</name><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><name sortKey="Stella, Lorenzo" sort="Stella, Lorenzo" uniqKey="Stella L" first="Lorenzo" last="Stella">Lorenzo Stella</name><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name></country><country name="Australie"><noRegion><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name></noRegion><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name></country><country name="Inde"><noRegion><name sortKey="Nair, Lal D V" sort="Nair, Lal D V" uniqKey="Nair L" first="Lal D V" last="Nair">Lal D V. Nair</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Nguyen, Thi Tuyet Mai" sort="Nguyen, Thi Tuyet Mai" uniqKey="Nguyen T" first="Thi Tuyet Mai" last="Nguyen">Thi Tuyet Mai Nguyen</name></noRegion><name sortKey="Campeau, Philippe M" sort="Campeau, Philippe M" uniqKey="Campeau P" first="Philippe M" last="Campeau">Philippe M. Campeau</name></country><country name="France"><region name="Bourgogne-Franche-Comté"><name sortKey="Thierry, Patrick" sort="Thierry, Patrick" uniqKey="Thierry P" first="Patrick" last="Thierry">Patrick Thierry</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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