De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Identifieur interne : 001A68 ( PubMed/Curation ); précédent : 001A67; suivant : 001A69De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Auteurs : E E Palmer [Australie] ; T. Stuhlmann [Allemagne] ; S. Weinert [Allemagne] ; E. Haan [Australie] ; H. Van Esch [Belgique] ; M. Holvoet [Belgique] ; J. Boyle [Australie] ; M. Leffler [Australie] ; M. Raynaud [France] ; C. Moraine [France] ; H. Van Bokhoven [Pays-Bas] ; T. Kleefstra [Pays-Bas] ; K. Kahrizi [Iran] ; H. Najmabadi [Iran] ; H-H Ropers [Allemagne] ; M R Delgado [États-Unis] ; D. Sirsi [États-Unis] ; S. Golla [États-Unis] ; A. Sommer [États-Unis] ; M P Pietryga [États-Unis] ; W K Chung [États-Unis] ; J. Wynn [États-Unis] ; L. Rohena [États-Unis] ; E. Bernardo [États-Unis] ; D. Hamlin [États-Unis] ; B M Faux [États-Unis] ; D K Grange [États-Unis] ; L. Manwaring [États-Unis] ; J. Tolmie [Royaume-Uni] ; S. Joss [Royaume-Uni] ; J M Cobben [Pays-Bas] ; F A M. Duijkers [Pays-Bas] ; J M Goehringer [États-Unis] ; T D Challman [États-Unis] ; F. Hennig [Allemagne] ; U. Fischer [Allemagne] ; A. Grimme [Allemagne] ; V. Suckow [Allemagne] ; L. Musante [Allemagne] ; J. Nicholl [Australie] ; M. Shaw [Australie] ; S P Lodh [Australie] ; Z. Niu [États-Unis] ; J A Rosenfeld [États-Unis] ; P. Stankiewicz [États-Unis] ; T J Jentsch [Allemagne] ; J. Gecz [Australie] ; M. Field [Australie] ; V M Kalscheuer [Allemagne]Source :
- Molecular psychiatry [ 1476-5578 ] ; 2016.
Abstract
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported). Intellectual disability ranged from borderline to profound. Behavioral and psychiatric disorders were common in both child- and adulthood, and included autistic features, mood disorders, obsessive-compulsive behaviors and hetero- and autoaggression. Epilepsy was common, with severity ranging from epileptic encephalopathy to well-controlled seizures. Several affected individuals showed white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity. Heterozygous females can be as severely affected as males. The variability of symptoms in females is not correlated with the X inactivation pattern studied in their blood. The mutation spectrum includes frameshift, missense and splice site variants and one single-exon deletion. All missense variants were predicted to affect CLCN4's function based on in silico tools and either segregated with the phenotype in the family or were de novo. Pathogenicity of all previously unreported missense variants was further supported by electrophysiological studies in Xenopus laevis oocytes. We compare CLCN4-related disorder with conditions related to dysfunction of other members of the CLC family.Molecular Psychiatry advance online publication, 23 August 2016; doi:10.1038/mp.2016.135.
DOI: 10.1038/mp.2016.135
PubMed: 27550844
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Stuhlmann</name><affiliation wicri:level="1"><nlm:affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Weinert, S" sort="Weinert, S" uniqKey="Weinert S" first="S" last="Weinert">S. Weinert</name><affiliation wicri:level="1"><nlm:affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Haan, E" sort="Haan, E" uniqKey="Haan E" first="E" last="Haan">E. Haan</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, The University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Van Esch, H" sort="Van Esch, H" uniqKey="Van Esch H" first="H" last="Van Esch">H. Van Esch</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea></affiliation></author><author><name sortKey="Holvoet, M" sort="Holvoet, M" uniqKey="Holvoet M" first="M" last="Holvoet">M. Holvoet</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea></affiliation></author><author><name sortKey="Boyle, J" sort="Boyle, J" uniqKey="Boyle J" first="J" last="Boyle">J. Boyle</name><affiliation wicri:level="1"><nlm:affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Leffler, M" sort="Leffler, M" uniqKey="Leffler M" first="M" last="Leffler">M. 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Moraine</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea></affiliation></author><author><name sortKey="Van Bokhoven, H" sort="Van Bokhoven, H" uniqKey="Van Bokhoven H" first="H" last="Van Bokhoven">H. Van Bokhoven</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Kahrizi, K" sort="Kahrizi, K" uniqKey="Kahrizi K" first="K" last="Kahrizi">K. Kahrizi</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran</wicri:regionArea></affiliation></author><author><name sortKey="Najmabadi, H" sort="Najmabadi, H" uniqKey="Najmabadi H" first="H" last="Najmabadi">H. 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Sirsi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX</wicri:regionArea></affiliation></author><author><name sortKey="Golla, S" sort="Golla, S" uniqKey="Golla S" first="S" last="Golla">S. Golla</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX</wicri:regionArea></affiliation></author><author><name sortKey="Sommer, A" sort="Sommer, A" uniqKey="Sommer A" first="A" last="Sommer">A. Sommer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH</wicri:regionArea></affiliation></author><author><name sortKey="Pietryga, M P" sort="Pietryga, M P" uniqKey="Pietryga M" first="M P" last="Pietryga">M P Pietryga</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH</wicri:regionArea></affiliation></author><author><name sortKey="Chung, W K" sort="Chung, W K" uniqKey="Chung W" first="W K" last="Chung">W K Chung</name><affiliation wicri:level="1"><nlm:affiliation>Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Columbia University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Wynn, J" sort="Wynn, J" uniqKey="Wynn J" first="J" last="Wynn">J. Wynn</name><affiliation wicri:level="1"><nlm:affiliation>Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Columbia University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Rohena, L" sort="Rohena, L" uniqKey="Rohena L" first="L" last="Rohena">L. Rohena</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Bernardo, E" sort="Bernardo, E" uniqKey="Bernardo E" first="E" last="Bernardo">E. Bernardo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Hamlin, D" sort="Hamlin, D" uniqKey="Hamlin D" first="D" last="Hamlin">D. Hamlin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Faux, B M" sort="Faux, B M" uniqKey="Faux B" first="B M" last="Faux">B M Faux</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Grange, D K" sort="Grange, D K" uniqKey="Grange D" first="D K" last="Grange">D K Grange</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Manwaring, L" sort="Manwaring, L" uniqKey="Manwaring L" first="L" last="Manwaring">L. Manwaring</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Tolmie, J" sort="Tolmie, J" uniqKey="Tolmie J" first="J" last="Tolmie">J. Tolmie</name><affiliation wicri:level="1"><nlm:affiliation>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Joss, S" sort="Joss, S" uniqKey="Joss S" first="S" last="Joss">S. Joss</name><affiliation wicri:level="1"><nlm:affiliation>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Cobben, J M" sort="Cobben, J M" uniqKey="Cobben J" first="J M" last="Cobben">J M Cobben</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, AMC University Hospital Amsterdam, Amsterdam</wicri:regionArea></affiliation></author><author><name sortKey="Duijkers, F A M" sort="Duijkers, F A M" uniqKey="Duijkers F" first="F A M" last="Duijkers">F A M. Duijkers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, AMC University Hospital Amsterdam, Amsterdam</wicri:regionArea></affiliation></author><author><name sortKey="Goehringer, J M" sort="Goehringer, J M" uniqKey="Goehringer J" first="J M" last="Goehringer">J M Goehringer</name><affiliation wicri:level="1"><nlm:affiliation>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA</wicri:regionArea></affiliation></author><author><name sortKey="Challman, T D" sort="Challman, T D" uniqKey="Challman T" first="T D" last="Challman">T D Challman</name><affiliation wicri:level="1"><nlm:affiliation>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA</wicri:regionArea></affiliation></author><author><name sortKey="Hennig, F" sort="Hennig, F" uniqKey="Hennig F" first="F" last="Hennig">F. Hennig</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Fischer, U" sort="Fischer, U" uniqKey="Fischer U" first="U" last="Fischer">U. Fischer</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Grimme, A" sort="Grimme, A" uniqKey="Grimme A" first="A" last="Grimme">A. Grimme</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Suckow, V" sort="Suckow, V" uniqKey="Suckow V" first="V" last="Suckow">V. Suckow</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Musante, L" sort="Musante, L" uniqKey="Musante L" first="L" last="Musante">L. Musante</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Nicholl, J" sort="Nicholl, J" uniqKey="Nicholl J" first="J" last="Nicholl">J. Nicholl</name><affiliation wicri:level="1"><nlm:affiliation>SA Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Pathology, Women's and Children's Hospital, North Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Shaw, M" sort="Shaw, M" uniqKey="Shaw M" first="M" last="Shaw">M. Shaw</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, The University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Lodh, S P" sort="Lodh, S P" uniqKey="Lodh S" first="S P" last="Lodh">S P Lodh</name><affiliation wicri:level="1"><nlm:affiliation>School of Women and Children's Health, University of New South Wales, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Women and Children's Health, University of New South Wales, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Niu, Z" sort="Niu, Z" uniqKey="Niu Z" first="Z" last="Niu">Z. Niu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Rosenfeld, J A" sort="Rosenfeld, J A" uniqKey="Rosenfeld J" first="J A" last="Rosenfeld">J A Rosenfeld</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Stankiewicz, P" sort="Stankiewicz, P" uniqKey="Stankiewicz P" first="P" last="Stankiewicz">P. Stankiewicz</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Jentsch, T J" sort="Jentsch, T J" uniqKey="Jentsch T" first="T J" last="Jentsch">T J Jentsch</name><affiliation wicri:level="1"><nlm:affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, The University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name><affiliation wicri:level="1"><nlm:affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Kalscheuer, V M" sort="Kalscheuer, V M" uniqKey="Kalscheuer V" first="V M" last="Kalscheuer">V M Kalscheuer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27550844</idno><idno type="pmid">27550844</idno><idno type="doi">10.1038/mp.2016.135</idno><idno type="wicri:Area/PubMed/Corpus">001A92</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001A92</idno><idno type="wicri:Area/PubMed/Curation">001A68</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001A68</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.</title><author><name sortKey="Palmer, E E" sort="Palmer, E E" uniqKey="Palmer E" first="E E" last="Palmer">E E Palmer</name><affiliation wicri:level="1"><nlm:affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Stuhlmann, T" sort="Stuhlmann, T" uniqKey="Stuhlmann T" first="T" last="Stuhlmann">T. Stuhlmann</name><affiliation wicri:level="1"><nlm:affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Weinert, S" sort="Weinert, S" uniqKey="Weinert S" first="S" last="Weinert">S. Weinert</name><affiliation wicri:level="1"><nlm:affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Haan, E" sort="Haan, E" uniqKey="Haan E" first="E" last="Haan">E. Haan</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, The University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Van Esch, H" sort="Van Esch, H" uniqKey="Van Esch H" first="H" last="Van Esch">H. Van Esch</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea></affiliation></author><author><name sortKey="Holvoet, M" sort="Holvoet, M" uniqKey="Holvoet M" first="M" last="Holvoet">M. Holvoet</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea></affiliation></author><author><name sortKey="Boyle, J" sort="Boyle, J" uniqKey="Boyle J" first="J" last="Boyle">J. Boyle</name><affiliation wicri:level="1"><nlm:affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Leffler, M" sort="Leffler, M" uniqKey="Leffler M" first="M" last="Leffler">M. Leffler</name><affiliation wicri:level="1"><nlm:affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Raynaud, M" sort="Raynaud, M" uniqKey="Raynaud M" first="M" last="Raynaud">M. Raynaud</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea></affiliation></author><author><name sortKey="Moraine, C" sort="Moraine, C" uniqKey="Moraine C" first="C" last="Moraine">C. Moraine</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea></affiliation></author><author><name sortKey="Van Bokhoven, H" sort="Van Bokhoven, H" uniqKey="Van Bokhoven H" first="H" last="Van Bokhoven">H. Van Bokhoven</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Kahrizi, K" sort="Kahrizi, K" uniqKey="Kahrizi K" first="K" last="Kahrizi">K. Kahrizi</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran</wicri:regionArea></affiliation></author><author><name sortKey="Najmabadi, H" sort="Najmabadi, H" uniqKey="Najmabadi H" first="H" last="Najmabadi">H. Najmabadi</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran</wicri:regionArea></affiliation></author><author><name sortKey="Ropers, H H" sort="Ropers, H H" uniqKey="Ropers H" first="H-H" last="Ropers">H-H Ropers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Delgado, M R" sort="Delgado, M R" uniqKey="Delgado M" first="M R" last="Delgado">M R Delgado</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX</wicri:regionArea></affiliation></author><author><name sortKey="Sirsi, D" sort="Sirsi, D" uniqKey="Sirsi D" first="D" last="Sirsi">D. Sirsi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX</wicri:regionArea></affiliation></author><author><name sortKey="Golla, S" sort="Golla, S" uniqKey="Golla S" first="S" last="Golla">S. Golla</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX</wicri:regionArea></affiliation></author><author><name sortKey="Sommer, A" sort="Sommer, A" uniqKey="Sommer A" first="A" last="Sommer">A. Sommer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH</wicri:regionArea></affiliation></author><author><name sortKey="Pietryga, M P" sort="Pietryga, M P" uniqKey="Pietryga M" first="M P" last="Pietryga">M P Pietryga</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH</wicri:regionArea></affiliation></author><author><name sortKey="Chung, W K" sort="Chung, W K" uniqKey="Chung W" first="W K" last="Chung">W K Chung</name><affiliation wicri:level="1"><nlm:affiliation>Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Columbia University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Wynn, J" sort="Wynn, J" uniqKey="Wynn J" first="J" last="Wynn">J. Wynn</name><affiliation wicri:level="1"><nlm:affiliation>Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Columbia University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Rohena, L" sort="Rohena, L" uniqKey="Rohena L" first="L" last="Rohena">L. Rohena</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Bernardo, E" sort="Bernardo, E" uniqKey="Bernardo E" first="E" last="Bernardo">E. Bernardo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Hamlin, D" sort="Hamlin, D" uniqKey="Hamlin D" first="D" last="Hamlin">D. Hamlin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Faux, B M" sort="Faux, B M" uniqKey="Faux B" first="B M" last="Faux">B M Faux</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Grange, D K" sort="Grange, D K" uniqKey="Grange D" first="D K" last="Grange">D K Grange</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Manwaring, L" sort="Manwaring, L" uniqKey="Manwaring L" first="L" last="Manwaring">L. Manwaring</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Tolmie, J" sort="Tolmie, J" uniqKey="Tolmie J" first="J" last="Tolmie">J. Tolmie</name><affiliation wicri:level="1"><nlm:affiliation>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Joss, S" sort="Joss, S" uniqKey="Joss S" first="S" last="Joss">S. Joss</name><affiliation wicri:level="1"><nlm:affiliation>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Cobben, J M" sort="Cobben, J M" uniqKey="Cobben J" first="J M" last="Cobben">J M Cobben</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, AMC University Hospital Amsterdam, Amsterdam</wicri:regionArea></affiliation></author><author><name sortKey="Duijkers, F A M" sort="Duijkers, F A M" uniqKey="Duijkers F" first="F A M" last="Duijkers">F A M. Duijkers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, AMC University Hospital Amsterdam, Amsterdam</wicri:regionArea></affiliation></author><author><name sortKey="Goehringer, J M" sort="Goehringer, J M" uniqKey="Goehringer J" first="J M" last="Goehringer">J M Goehringer</name><affiliation wicri:level="1"><nlm:affiliation>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA</wicri:regionArea></affiliation></author><author><name sortKey="Challman, T D" sort="Challman, T D" uniqKey="Challman T" first="T D" last="Challman">T D Challman</name><affiliation wicri:level="1"><nlm:affiliation>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA</wicri:regionArea></affiliation></author><author><name sortKey="Hennig, F" sort="Hennig, F" uniqKey="Hennig F" first="F" last="Hennig">F. Hennig</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Fischer, U" sort="Fischer, U" uniqKey="Fischer U" first="U" last="Fischer">U. Fischer</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Grimme, A" sort="Grimme, A" uniqKey="Grimme A" first="A" last="Grimme">A. Grimme</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Suckow, V" sort="Suckow, V" uniqKey="Suckow V" first="V" last="Suckow">V. Suckow</name><affiliation wicri:level="1"><nlm:affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Musante, L" sort="Musante, L" uniqKey="Musante L" first="L" last="Musante">L. Musante</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Nicholl, J" sort="Nicholl, J" uniqKey="Nicholl J" first="J" last="Nicholl">J. Nicholl</name><affiliation wicri:level="1"><nlm:affiliation>SA Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Pathology, Women's and Children's Hospital, North Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Shaw, M" sort="Shaw, M" uniqKey="Shaw M" first="M" last="Shaw">M. Shaw</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, The University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Lodh, S P" sort="Lodh, S P" uniqKey="Lodh S" first="S P" last="Lodh">S P Lodh</name><affiliation wicri:level="1"><nlm:affiliation>School of Women and Children's Health, University of New South Wales, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Women and Children's Health, University of New South Wales, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Niu, Z" sort="Niu, Z" uniqKey="Niu Z" first="Z" last="Niu">Z. Niu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Rosenfeld, J A" sort="Rosenfeld, J A" uniqKey="Rosenfeld J" first="J A" last="Rosenfeld">J A Rosenfeld</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Stankiewicz, P" sort="Stankiewicz, P" uniqKey="Stankiewicz P" first="P" last="Stankiewicz">P. Stankiewicz</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea></affiliation></author><author><name sortKey="Jentsch, T J" sort="Jentsch, T J" uniqKey="Jentsch T" first="T J" last="Jentsch">T J Jentsch</name><affiliation wicri:level="1"><nlm:affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, The University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name><affiliation wicri:level="1"><nlm:affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Kalscheuer, V M" sort="Kalscheuer, V M" uniqKey="Kalscheuer V" first="V M" last="Kalscheuer">V M Kalscheuer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author></analytic><series><title level="j">Molecular psychiatry</title><idno type="eISSN">1476-5578</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">Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported). Intellectual disability ranged from borderline to profound. Behavioral and psychiatric disorders were common in both child- and adulthood, and included autistic features, mood disorders, obsessive-compulsive behaviors and hetero- and autoaggression. Epilepsy was common, with severity ranging from epileptic encephalopathy to well-controlled seizures. Several affected individuals showed white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity. Heterozygous females can be as severely affected as males. The variability of symptoms in females is not correlated with the X inactivation pattern studied in their blood. The mutation spectrum includes frameshift, missense and splice site variants and one single-exon deletion. All missense variants were predicted to affect CLCN4's function based on in silico tools and either segregated with the phenotype in the family or were de novo. Pathogenicity of all previously unreported missense variants was further supported by electrophysiological studies in Xenopus laevis oocytes. We compare CLCN4-related disorder with conditions related to dysfunction of other members of the CLC family.Molecular Psychiatry advance online publication, 23 August 2016; doi:10.1038/mp.2016.135.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">27550844</PMID><DateCreated><Year>2016</Year><Month>08</Month><Day>23</Day></DateCreated><DateRevised><Year>2016</Year><Month>08</Month><Day>23</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5578</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2016</Year><Month>Aug</Month><Day>23</Day></PubDate></JournalIssue><Title>Molecular psychiatry</Title><ISOAbbreviation>Mol. Psychiatry</ISOAbbreviation></Journal><ArticleTitle>De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1038/mp.2016.135</ELocationID><Abstract><AbstractText>Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported). Intellectual disability ranged from borderline to profound. Behavioral and psychiatric disorders were common in both child- and adulthood, and included autistic features, mood disorders, obsessive-compulsive behaviors and hetero- and autoaggression. Epilepsy was common, with severity ranging from epileptic encephalopathy to well-controlled seizures. Several affected individuals showed white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity. Heterozygous females can be as severely affected as males. The variability of symptoms in females is not correlated with the X inactivation pattern studied in their blood. The mutation spectrum includes frameshift, missense and splice site variants and one single-exon deletion. All missense variants were predicted to affect CLCN4's function based on in silico tools and either segregated with the phenotype in the family or were de novo. Pathogenicity of all previously unreported missense variants was further supported by electrophysiological studies in Xenopus laevis oocytes. We compare CLCN4-related disorder with conditions related to dysfunction of other members of the CLC family.Molecular Psychiatry advance online publication, 23 August 2016; doi:10.1038/mp.2016.135.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Palmer</LastName><ForeName>E E</ForeName><Initials>EE</Initials><AffiliationInfo><Affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Women and Children's Health, University of New South Wales, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stuhlmann</LastName><ForeName>T</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department Physiology and Pathology of Ion Transport, Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Weinert</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department Physiology and Pathology of Ion Transport, Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haan</LastName><ForeName>E</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Van Esch</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Holvoet</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boyle</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leffler</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Raynaud</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Inserm U930 'Imaging and Brain', Tours, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University François-Rabelais, Tours, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moraine</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Inserm U930 'Imaging and Brain', Tours, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University François-Rabelais, Tours, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Bokhoven</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kleefstra</LastName><ForeName>T</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kahrizi</LastName><ForeName>K</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Najmabadi</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ropers</LastName><ForeName>H-H</ForeName><Initials>HH</Initials><AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delgado</LastName><ForeName>M R</ForeName><Initials>MR</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Texas Scottish Rite Hospital for Children, Dallas, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sirsi</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Golla</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sommer</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pietryga</LastName><ForeName>M P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chung</LastName><ForeName>W K</ForeName><Initials>WK</Initials><AffiliationInfo><Affiliation>Columbia University, New York, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wynn</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Columbia University, New York, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rohena</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bernardo</LastName><ForeName>E</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hamlin</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Faux</LastName><ForeName>B M</ForeName><Initials>BM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grange</LastName><ForeName>D K</ForeName><Initials>DK</Initials><AffiliationInfo><Affiliation>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Manwaring</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tolmie</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Joss</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>DDD Study</CollectiveName></Author><Author ValidYN="Y"><LastName>Cobben</LastName><ForeName>J M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Duijkers</LastName><ForeName>F A M</ForeName><Initials>FA</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goehringer</LastName><ForeName>J M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Challman</LastName><ForeName>T D</ForeName><Initials>TD</Initials><AffiliationInfo><Affiliation>Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hennig</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fischer</LastName><ForeName>U</ForeName><Initials>U</Initials><AffiliationInfo><Affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grimme</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Suckow</LastName><ForeName>V</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Musante</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicholl</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>SA Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shaw</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lodh</LastName><ForeName>S P</ForeName><Initials>SP</Initials><AffiliationInfo><Affiliation>School of Women and Children's Health, University of New South Wales, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Niu</LastName><ForeName>Z</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rosenfeld</LastName><ForeName>J A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stankiewicz</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jentsch</LastName><ForeName>T J</ForeName><Initials>TJ</Initials><AffiliationInfo><Affiliation>Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department Physiology and Pathology of Ion Transport, Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gecz</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>School of Medicine, The University of Adelaide, Adelaide, SA, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Field</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kalscheuer</LastName><ForeName>V M</ForeName><Initials>VM</Initials><AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>08</Month><Day>23</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Mol Psychiatry</MedlineTA><NlmUniqueID>9607835</NlmUniqueID><ISSNLinking>1359-4184</ISSNLinking></MedlineJournalInfo></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>02</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>05</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>06</Month><Day>20</Day></PubMedPubDate><PubMedPubDate 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