Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Identifieur interne : 001889 ( PubMed/Curation ); précédent : 001888; suivant : 001890Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Auteurs : Nina Bögershausen [Allemagne] ; Vincent Gatinois [France] ; Vera Riehmer [Allemagne] ; Hülya Kayserili [Turquie] ; Jutta Becker [Allemagne] ; Michaela Thoenes [Allemagne] ; Pelin Zlem Simsek-Kiper [Turquie] ; Mouna Barat-Houari [France] ; Nursel H. Elcioglu [Turquie] ; Dagmar Wieczorek [Allemagne] ; Sigrid Tinschert [Allemagne] ; Guillaume Sarrabay [France] ; Tim M. Strom [Allemagne] ; Aurélie Fabre [France] ; Gareth Baynam [Australie] ; Elodie Sanchez [France] ; Gudrun Nürnberg [Allemagne] ; Umut Altunoglu [Turquie] ; Yline Capri [France] ; Bertrand Isidor [France] ; Didier Lacombe [France] ; Carole Corsini [France] ; Valérie Cormier-Daire [France] ; Damien Sanlaville [France] ; Fabienne Giuliano [France] ; Kim-Hanh Le Quan Sang [France] ; Honorine Kayirangwa [France] ; Peter Nürnberg [Allemagne] ; Thomas Meitinger [Allemagne] ; Koray Boduroglu [Turquie] ; Barbara Zoll [Allemagne] ; Stanislas Lyonnet [France] ; Andreas Tzschach [Allemagne] ; Alain Verloes [France] ; Nataliya Di Donato [Allemagne] ; Isabelle Touitou [France] ; Christian Netzer [Allemagne] ; Yun Li [Allemagne] ; David Geneviève [France] ; Gökhan Yigit [Allemagne] ; Bernd Wollnik [Allemagne]Source :
- Human mutation [ 1098-1004 ] ; 2016.
Abstract
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.
DOI: 10.1002/humu.23026
PubMed: 27302555
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001912
Links to Exploration step
pubmed:27302555Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.</title><author><name sortKey="Bogershausen, Nina" sort="Bogershausen, Nina" uniqKey="Bogershausen N" first="Nina" last="Bögershausen">Nina Bögershausen</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Gatinois, Vincent" sort="Gatinois, Vincent" uniqKey="Gatinois V" first="Vincent" last="Gatinois">Vincent Gatinois</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Riehmer, Vera" sort="Riehmer, Vera" uniqKey="Riehmer V" first="Vera" last="Riehmer">Vera Riehmer</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Becker, Jutta" sort="Becker, Jutta" uniqKey="Becker J" first="Jutta" last="Becker">Jutta Becker</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Thoenes, Michaela" sort="Thoenes, Michaela" uniqKey="Thoenes M" first="Michaela" last="Thoenes">Michaela Thoenes</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Simsek Kiper, Pelin Zlem" sort="Simsek Kiper, Pelin Zlem" uniqKey="Simsek Kiper P" first="Pelin Zlem" last="Simsek-Kiper">Pelin Zlem Simsek-Kiper</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Barat Houari, Mouna" sort="Barat Houari, Mouna" uniqKey="Barat Houari M" first="Mouna" last="Barat-Houari">Mouna Barat-Houari</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Elcioglu, Nursel H" sort="Elcioglu, Nursel H" uniqKey="Elcioglu N" first="Nursel H" last="Elcioglu">Nursel H. Elcioglu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Duesseldorf, Duesseldorf</wicri:regionArea></affiliation></author><author><name sortKey="Tinschert, Sigrid" sort="Tinschert, Sigrid" uniqKey="Tinschert S" first="Sigrid" last="Tinschert">Sigrid Tinschert</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden</wicri:regionArea></affiliation></author><author><name sortKey="Sarrabay, Guillaume" sort="Sarrabay, Guillaume" uniqKey="Sarrabay G" first="Guillaume" last="Sarrabay">Guillaume Sarrabay</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurélie" last="Fabre">Aurélie Fabre</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Altunoglu, Umut" sort="Altunoglu, Umut" uniqKey="Altunoglu U" first="Umut" last="Altunoglu">Umut Altunoglu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Capri, Yline" sort="Capri, Yline" uniqKey="Capri Y" first="Yline" last="Capri">Yline Capri</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Nantes University Hospital, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Nantes University Hospital, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Corsini, Carole" sort="Corsini, Carole" uniqKey="Corsini C" first="Carole" last="Corsini">Carole Corsini</name><affiliation wicri:level="1"><nlm:affiliation>University of Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University of Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name><affiliation wicri:level="1"><nlm:affiliation>HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, l'Archet II Hospital, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, l'Archet II Hospital, Nice</wicri:regionArea></affiliation></author><author><name sortKey="Le Quan Sang, Kim Hanh" sort="Le Quan Sang, Kim Hanh" uniqKey="Le Quan Sang K" first="Kim-Hanh" last="Le Quan Sang">Kim-Hanh Le Quan Sang</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Kayirangwa, Honorine" sort="Kayirangwa, Honorine" uniqKey="Kayirangwa H" first="Honorine" last="Kayirangwa">Honorine Kayirangwa</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Boduroglu, Koray" sort="Boduroglu, Koray" uniqKey="Boduroglu K" first="Koray" last="Boduroglu">Koray Boduroglu</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Zoll, Barbara" sort="Zoll, Barbara" uniqKey="Zoll B" first="Barbara" last="Zoll">Barbara Zoll</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden</wicri:regionArea></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Di Donato, Nataliya" sort="Di Donato, Nataliya" uniqKey="Di Donato N" first="Nataliya" last="Di Donato">Nataliya Di Donato</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden</wicri:regionArea></affiliation></author><author><name sortKey="Touitou, Isabelle" sort="Touitou, Isabelle" uniqKey="Touitou I" first="Isabelle" last="Touitou">Isabelle Touitou</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Netzer, Christian" sort="Netzer, Christian" uniqKey="Netzer C" first="Christian" last="Netzer">Christian Netzer</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Li, Yun" sort="Li, Yun" uniqKey="Li Y" first="Yun" last="Li">Yun Li</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="1"><nlm:affiliation>University of Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University of Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27302555</idno><idno type="pmid">27302555</idno><idno type="doi">10.1002/humu.23026</idno><idno type="wicri:Area/PubMed/Corpus">001912</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001912</idno><idno type="wicri:Area/PubMed/Curation">001889</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001889</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.</title><author><name sortKey="Bogershausen, Nina" sort="Bogershausen, Nina" uniqKey="Bogershausen N" first="Nina" last="Bögershausen">Nina Bögershausen</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Gatinois, Vincent" sort="Gatinois, Vincent" uniqKey="Gatinois V" first="Vincent" last="Gatinois">Vincent Gatinois</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Riehmer, Vera" sort="Riehmer, Vera" uniqKey="Riehmer V" first="Vera" last="Riehmer">Vera Riehmer</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Becker, Jutta" sort="Becker, Jutta" uniqKey="Becker J" first="Jutta" last="Becker">Jutta Becker</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Thoenes, Michaela" sort="Thoenes, Michaela" uniqKey="Thoenes M" first="Michaela" last="Thoenes">Michaela Thoenes</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Simsek Kiper, Pelin Zlem" sort="Simsek Kiper, Pelin Zlem" uniqKey="Simsek Kiper P" first="Pelin Zlem" last="Simsek-Kiper">Pelin Zlem Simsek-Kiper</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Barat Houari, Mouna" sort="Barat Houari, Mouna" uniqKey="Barat Houari M" first="Mouna" last="Barat-Houari">Mouna Barat-Houari</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Elcioglu, Nursel H" sort="Elcioglu, Nursel H" uniqKey="Elcioglu N" first="Nursel H" last="Elcioglu">Nursel H. Elcioglu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Duesseldorf, Duesseldorf</wicri:regionArea></affiliation></author><author><name sortKey="Tinschert, Sigrid" sort="Tinschert, Sigrid" uniqKey="Tinschert S" first="Sigrid" last="Tinschert">Sigrid Tinschert</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden</wicri:regionArea></affiliation></author><author><name sortKey="Sarrabay, Guillaume" sort="Sarrabay, Guillaume" uniqKey="Sarrabay G" first="Guillaume" last="Sarrabay">Guillaume Sarrabay</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurélie" last="Fabre">Aurélie Fabre</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR1183, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR1183, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Altunoglu, Umut" sort="Altunoglu, Umut" uniqKey="Altunoglu U" first="Umut" last="Altunoglu">Umut Altunoglu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Capri, Yline" sort="Capri, Yline" uniqKey="Capri Y" first="Yline" last="Capri">Yline Capri</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Nantes University Hospital, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Nantes University Hospital, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Corsini, Carole" sort="Corsini, Carole" uniqKey="Corsini C" first="Carole" last="Corsini">Carole Corsini</name><affiliation wicri:level="1"><nlm:affiliation>University of Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University of Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name><affiliation wicri:level="1"><nlm:affiliation>HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, l'Archet II Hospital, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, l'Archet II Hospital, Nice</wicri:regionArea></affiliation></author><author><name sortKey="Le Quan Sang, Kim Hanh" sort="Le Quan Sang, Kim Hanh" uniqKey="Le Quan Sang K" first="Kim-Hanh" last="Le Quan Sang">Kim-Hanh Le Quan Sang</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Kayirangwa, Honorine" sort="Kayirangwa, Honorine" uniqKey="Kayirangwa H" first="Honorine" last="Kayirangwa">Honorine Kayirangwa</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="1"><nlm:affiliation>Cologne Center for Genomics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Boduroglu, Koray" sort="Boduroglu, Koray" uniqKey="Boduroglu K" first="Koray" last="Boduroglu">Koray Boduroglu</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Zoll, Barbara" sort="Zoll, Barbara" uniqKey="Zoll B" first="Barbara" last="Zoll">Barbara Zoll</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation wicri:level="1"><nlm:affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden</wicri:regionArea></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Di Donato, Nataliya" sort="Di Donato, Nataliya" uniqKey="Di Donato N" first="Nataliya" last="Di Donato">Nataliya Di Donato</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden</wicri:regionArea></affiliation></author><author><name sortKey="Touitou, Isabelle" sort="Touitou, Isabelle" uniqKey="Touitou I" first="Isabelle" last="Touitou">Isabelle Touitou</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Netzer, Christian" sort="Netzer, Christian" uniqKey="Netzer C" first="Christian" last="Netzer">Christian Netzer</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea></affiliation></author><author><name sortKey="Li, Yun" sort="Li, Yun" uniqKey="Li Y" first="Yun" last="Li">Yun Li</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation wicri:level="1"><nlm:affiliation>University of Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University of Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Yigit, Gokhan" sort="Yigit, Gokhan" uniqKey="Yigit G" first="Gökhan" last="Yigit">Gökhan Yigit</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author><author><name sortKey="Wollnik, Bernd" sort="Wollnik, Bernd" uniqKey="Wollnik B" first="Bernd" last="Wollnik">Bernd Wollnik</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Goettingen, Goettingen</wicri:regionArea></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27302555</PMID><DateCreated><Year>2016</Year><Month>08</Month><Day>12</Day></DateCreated><DateRevised><Year>2016</Year><Month>08</Month><Day>12</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1098-1004</ISSN><JournalIssue CitedMedium="Internet"><Volume>37</Volume><Issue>9</Issue><PubDate><Year>2016</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Human mutation</Title><ISOAbbreviation>Hum. Mutat.</ISOAbbreviation></Journal><ArticleTitle>Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.</ArticleTitle><Pagination><MedlinePgn>847-64</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/humu.23026</ELocationID><Abstract><AbstractText>Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.</AbstractText><CopyrightInformation>© 2016 WILEY PERIODICALS, INC.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bögershausen</LastName><ForeName>Nina</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gatinois</LastName><ForeName>Vincent</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Riehmer</LastName><ForeName>Vera</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kayserili</LastName><ForeName>Hülya</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Becker</LastName><ForeName>Jutta</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thoenes</LastName><ForeName>Michaela</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simsek-Kiper</LastName><ForeName>Pelin Özlem</ForeName><Initials>PÖ</Initials><AffiliationInfo><Affiliation>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barat-Houari</LastName><ForeName>Mouna</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Elcioglu</LastName><ForeName>Nursel H</ForeName><Initials>NH</Initials><AffiliationInfo><Affiliation>Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wieczorek</LastName><ForeName>Dagmar</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tinschert</LastName><ForeName>Sigrid</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Zentrum für Humangenetik, Medizinische Universität, Innsbruck, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sarrabay</LastName><ForeName>Guillaume</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strom</LastName><ForeName>Tim M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fabre</LastName><ForeName>Aurélie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baynam</LastName><ForeName>Gareth</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Western Australian Register of Developmental Anomalies, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Telethon Kids Institute, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sanchez</LastName><ForeName>Elodie</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nürnberg</LastName><ForeName>Gudrun</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Cologne Center for Genomics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Altunoglu</LastName><ForeName>Umut</ForeName><Initials>U</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Capri</LastName><ForeName>Yline</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Isidor</LastName><ForeName>Bertrand</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Genetics, Nantes University Hospital, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lacombe</LastName><ForeName>Didier</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Corsini</LastName><ForeName>Carole</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Genetics, Reference Center for Developmental Abnormalities, CHU, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cormier-Daire</LastName><ForeName>Valérie</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sanlaville</LastName><ForeName>Damien</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Giuliano</LastName><ForeName>Fabienne</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, l'Archet II Hospital, Nice, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le Quan Sang</LastName><ForeName>Kim-Hanh</ForeName><Initials>KH</Initials><AffiliationInfo><Affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kayirangwa</LastName><ForeName>Honorine</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nürnberg</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Cologne Center for Genomics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Meitinger</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boduroglu</LastName><ForeName>Koray</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zoll</LastName><ForeName>Barbara</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lyonnet</LastName><ForeName>Stanislas</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tzschach</LastName><ForeName>Andreas</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verloes</LastName><ForeName>Alain</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Di Donato</LastName><ForeName>Nataliya</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Touitou</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Netzer</LastName><ForeName>Christian</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Cologne, Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Yun</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geneviève</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM UMR1183, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Genetics, Reference Center for Developmental Abnormalities, CHU, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yigit</LastName><ForeName>Gökhan</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wollnik</LastName><ForeName>Bernd</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>07</Month><Day>07</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Hum Mutat</MedlineTA><NlmUniqueID>9215429</NlmUniqueID><ISSNLinking>1059-7794</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">KDM6A</Keyword><Keyword MajorTopicYN="N">KDM6C</Keyword><Keyword MajorTopicYN="N">KMT2D</Keyword><Keyword MajorTopicYN="N">Kabuki syndrome</Keyword><Keyword MajorTopicYN="N">MLL2</Keyword><Keyword MajorTopicYN="N">UTY</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>12</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>05</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>6</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>6</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>6</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27302555</ArticleId><ArticleId IdType="doi">10.1002/humu.23026</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001889 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 001889 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:27302555
|texte= Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:27302555" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |