YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Identifieur interne : 000A34 ( PubMed/Corpus ); précédent : 000A33; suivant : 000A35YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Auteurs : Michele Gabriele ; Anneke T. Vulto-Van Silfhout ; Pierre-Luc Germain ; Alessandro Vitriolo ; Raman Kumar ; Evelyn Douglas ; Eric Haan ; Kenjiro Kosaki ; Toshiki Takenouchi ; Anita Rauch ; Katharina Steindl ; Eirik Frengen ; Doriana Misceo ; Christeen Ramane J. Pedurupillay ; Petter Stromme ; Jill A. Rosenfeld ; Yunru Shao ; William J. Craigen ; Christian P. Schaaf ; David Rodriguez-Buritica ; Laura Farach ; Jennifer Friedman ; Perla Thulin ; Scott D. Mclean ; Kimberly M. Nugent ; Jenny Morton ; Jillian Nicholl ; Joris Andrieux ; Asbj Rg Stray-Pedersen ; Pascal Chambon ; Sophie Patrier ; Sally A. Lynch ; Susanne Kjaergaard ; Pernille M. T Rring ; Charlotte Brasch-Andersen ; Anne Ronan ; Arie Van Haeringen ; Peter J. Anderson ; Zöe Powis ; Han G. Brunner ; Rolph Pfundt ; Janneke H M. Schuurs-Hoeijmakers ; Bregje W M. Van Bon ; Stefan Lelieveld ; Christian Gilissen ; Willy M. Nillesen ; Lisenka E L M. Vissers ; Jozef Gecz ; David A. Koolen ; Giuseppe Testa ; Bert B A. De VriesSource :
- American journal of human genetics [ 1537-6605 ] ; 2017.
English descriptors
- KwdEn :
- Acetylation, Adolescent, Base Sequence, Child, Preschool, Chromatin (metabolism), Chromatin Immunoprecipitation, Cohort Studies, Enhancer Elements, Genetic (genetics), Female, Gene Ontology, Haploinsufficiency (genetics), Haplotypes (genetics), Hemizygote, Histones (metabolism), Humans, Intellectual Disability (genetics), Lymphocytes (metabolism), Male, Methylation, Models, Molecular, Mutation, Missense (genetics), Protein Binding (genetics), Protein Domains, Transcription, Genetic, YY1 Transcription Factor (chemistry), YY1 Transcription Factor (genetics).
- MESH :
- chemical , chemistry : YY1 Transcription Factor.
- chemical , genetics : YY1 Transcription Factor.
- chemical , metabolism : Chromatin, Histones.
- genetics : Enhancer Elements, Genetic, Haploinsufficiency, Haplotypes, Intellectual Disability, Mutation, Missense, Protein Binding.
- metabolism : Lymphocytes.
- Acetylation, Adolescent, Base Sequence, Child, Preschool, Chromatin Immunoprecipitation, Cohort Studies, Female, Gene Ontology, Hemizygote, Humans, Male, Methylation, Models, Molecular, Protein Domains, Transcription, Genetic.
Abstract
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.
DOI: 10.1016/j.ajhg.2017.05.006
PubMed: 28575647
Links to Exploration step
pubmed:28575647Le document en format XML
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Vulto-Van Silfhout</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Germain, Pierre Luc" sort="Germain, Pierre Luc" uniqKey="Germain P" first="Pierre-Luc" last="Germain">Pierre-Luc Germain</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Vitriolo, Alessandro" sort="Vitriolo, Alessandro" uniqKey="Vitriolo A" first="Alessandro" last="Vitriolo">Alessandro Vitriolo</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name><affiliation><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><affiliation><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Kosaki, Kenjiro" sort="Kosaki, Kenjiro" uniqKey="Kosaki K" first="Kenjiro" last="Kosaki">Kenjiro Kosaki</name><affiliation><nlm:affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Takenouchi, Toshiki" sort="Takenouchi, Toshiki" uniqKey="Takenouchi T" first="Toshiki" last="Takenouchi">Toshiki Takenouchi</name><affiliation><nlm:affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</nlm:affiliation></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</nlm:affiliation></affiliation></author><author><name sortKey="Frengen, Eirik" sort="Frengen, Eirik" uniqKey="Frengen E" first="Eirik" last="Frengen">Eirik Frengen</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Misceo, Doriana" sort="Misceo, Doriana" uniqKey="Misceo D" first="Doriana" last="Misceo">Doriana Misceo</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Pedurupillay, Christeen Ramane J" sort="Pedurupillay, Christeen Ramane J" uniqKey="Pedurupillay C" first="Christeen Ramane J" last="Pedurupillay">Christeen Ramane J. Pedurupillay</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Stromme, Petter" sort="Stromme, Petter" uniqKey="Stromme P" first="Petter" last="Stromme">Petter Stromme</name><affiliation><nlm:affiliation>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Shao, Yunru" sort="Shao, Yunru" uniqKey="Shao Y" first="Yunru" last="Shao">Yunru Shao</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Craigen, William J" sort="Craigen, William J" uniqKey="Craigen W" first="William J" last="Craigen">William J. Craigen</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Rodriguez Buritica, David" sort="Rodriguez Buritica, David" uniqKey="Rodriguez Buritica D" first="David" last="Rodriguez-Buritica">David Rodriguez-Buritica</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Farach, Laura" sort="Farach, Laura" uniqKey="Farach L" first="Laura" last="Farach">Laura Farach</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation><nlm:affiliation>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Thulin, Perla" sort="Thulin, Perla" uniqKey="Thulin P" first="Perla" last="Thulin">Perla Thulin</name><affiliation><nlm:affiliation>Department of Neurology, University of Utah, San Diego, CA 92123, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Mclean, Scott D" sort="Mclean, Scott D" uniqKey="Mclean S" first="Scott D" last="Mclean">Scott D. Mclean</name><affiliation><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Nugent, Kimberly M" sort="Nugent, Kimberly M" uniqKey="Nugent K" first="Kimberly M" last="Nugent">Kimberly M. Nugent</name><affiliation><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name><affiliation><nlm:affiliation>Birmingham Women's Hospital, B15 2TG Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><affiliation><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation><nlm:affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Stray Pedersen, Asbj Rg" sort="Stray Pedersen, Asbj Rg" uniqKey="Stray Pedersen A" first="Asbj Rg" last="Stray-Pedersen">Asbj Rg Stray-Pedersen</name><affiliation><nlm:affiliation>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation><nlm:affiliation>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Patrier, Sophie" sort="Patrier, Sophie" uniqKey="Patrier S" first="Sophie" last="Patrier">Sophie Patrier</name><affiliation><nlm:affiliation>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lynch, Sally A" sort="Lynch, Sally A" uniqKey="Lynch S" first="Sally A" last="Lynch">Sally A. Lynch</name><affiliation><nlm:affiliation>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="T Rring, Pernille M" sort="T Rring, Pernille M" uniqKey="T Rring P" first="Pernille M" last="T Rring">Pernille M. T Rring</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Brasch Andersen, Charlotte" sort="Brasch Andersen, Charlotte" uniqKey="Brasch Andersen C" first="Charlotte" last="Brasch-Andersen">Charlotte Brasch-Andersen</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Ronan, Anne" sort="Ronan, Anne" uniqKey="Ronan A" first="Anne" last="Ronan">Anne Ronan</name><affiliation><nlm:affiliation>Hunter Genetics, Waratah, NSW 2298, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Anderson, Peter J" sort="Anderson, Peter J" uniqKey="Anderson P" first="Peter J" last="Anderson">Peter J. Anderson</name><affiliation><nlm:affiliation>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Powis, Zoe" sort="Powis, Zoe" uniqKey="Powis Z" first="Zöe" last="Powis">Zöe Powis</name><affiliation><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke H M" sort="Schuurs Hoeijmakers, Janneke H M" uniqKey="Schuurs Hoeijmakers J" first="Janneke H M" last="Schuurs-Hoeijmakers">Janneke H M. Schuurs-Hoeijmakers</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Lelieveld, Stefan" sort="Lelieveld, Stefan" uniqKey="Lelieveld S" first="Stefan" last="Lelieveld">Stefan Lelieveld</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. Vissers</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Koolen, David A" sort="Koolen, David A" uniqKey="Koolen D" first="David A" last="Koolen">David A. Koolen</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Testa, Giuseppe" sort="Testa, Giuseppe" uniqKey="Testa G" first="Giuseppe" last="Testa">Giuseppe Testa</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy. Electronic address: giuseppe.testa@unimi.it.</nlm:affiliation></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.nl.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28575647</idno><idno type="pmid">28575647</idno><idno type="doi">10.1016/j.ajhg.2017.05.006</idno><idno type="wicri:Area/PubMed/Corpus">000A34</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000A34</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.</title><author><name sortKey="Gabriele, Michele" sort="Gabriele, Michele" uniqKey="Gabriele M" first="Michele" last="Gabriele">Michele Gabriele</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Vulto Van Silfhout, Anneke T" sort="Vulto Van Silfhout, Anneke T" uniqKey="Vulto Van Silfhout A" first="Anneke T" last="Vulto-Van Silfhout">Anneke T. Vulto-Van Silfhout</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Germain, Pierre Luc" sort="Germain, Pierre Luc" uniqKey="Germain P" first="Pierre-Luc" last="Germain">Pierre-Luc Germain</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Vitriolo, Alessandro" sort="Vitriolo, Alessandro" uniqKey="Vitriolo A" first="Alessandro" last="Vitriolo">Alessandro Vitriolo</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name><affiliation><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><affiliation><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Kosaki, Kenjiro" sort="Kosaki, Kenjiro" uniqKey="Kosaki K" first="Kenjiro" last="Kosaki">Kenjiro Kosaki</name><affiliation><nlm:affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Takenouchi, Toshiki" sort="Takenouchi, Toshiki" uniqKey="Takenouchi T" first="Toshiki" last="Takenouchi">Toshiki Takenouchi</name><affiliation><nlm:affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</nlm:affiliation></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation><nlm:affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</nlm:affiliation></affiliation></author><author><name sortKey="Frengen, Eirik" sort="Frengen, Eirik" uniqKey="Frengen E" first="Eirik" last="Frengen">Eirik Frengen</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Misceo, Doriana" sort="Misceo, Doriana" uniqKey="Misceo D" first="Doriana" last="Misceo">Doriana Misceo</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Pedurupillay, Christeen Ramane J" sort="Pedurupillay, Christeen Ramane J" uniqKey="Pedurupillay C" first="Christeen Ramane J" last="Pedurupillay">Christeen Ramane J. Pedurupillay</name><affiliation><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Stromme, Petter" sort="Stromme, Petter" uniqKey="Stromme P" first="Petter" last="Stromme">Petter Stromme</name><affiliation><nlm:affiliation>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Shao, Yunru" sort="Shao, Yunru" uniqKey="Shao Y" first="Yunru" last="Shao">Yunru Shao</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Craigen, William J" sort="Craigen, William J" uniqKey="Craigen W" first="William J" last="Craigen">William J. Craigen</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Rodriguez Buritica, David" sort="Rodriguez Buritica, David" uniqKey="Rodriguez Buritica D" first="David" last="Rodriguez-Buritica">David Rodriguez-Buritica</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Farach, Laura" sort="Farach, Laura" uniqKey="Farach L" first="Laura" last="Farach">Laura Farach</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation><nlm:affiliation>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Thulin, Perla" sort="Thulin, Perla" uniqKey="Thulin P" first="Perla" last="Thulin">Perla Thulin</name><affiliation><nlm:affiliation>Department of Neurology, University of Utah, San Diego, CA 92123, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Mclean, Scott D" sort="Mclean, Scott D" uniqKey="Mclean S" first="Scott D" last="Mclean">Scott D. Mclean</name><affiliation><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Nugent, Kimberly M" sort="Nugent, Kimberly M" uniqKey="Nugent K" first="Kimberly M" last="Nugent">Kimberly M. Nugent</name><affiliation><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name><affiliation><nlm:affiliation>Birmingham Women's Hospital, B15 2TG Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><affiliation><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation><nlm:affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Stray Pedersen, Asbj Rg" sort="Stray Pedersen, Asbj Rg" uniqKey="Stray Pedersen A" first="Asbj Rg" last="Stray-Pedersen">Asbj Rg Stray-Pedersen</name><affiliation><nlm:affiliation>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation><nlm:affiliation>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Patrier, Sophie" sort="Patrier, Sophie" uniqKey="Patrier S" first="Sophie" last="Patrier">Sophie Patrier</name><affiliation><nlm:affiliation>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lynch, Sally A" sort="Lynch, Sally A" uniqKey="Lynch S" first="Sally A" last="Lynch">Sally A. Lynch</name><affiliation><nlm:affiliation>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="T Rring, Pernille M" sort="T Rring, Pernille M" uniqKey="T Rring P" first="Pernille M" last="T Rring">Pernille M. T Rring</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Brasch Andersen, Charlotte" sort="Brasch Andersen, Charlotte" uniqKey="Brasch Andersen C" first="Charlotte" last="Brasch-Andersen">Charlotte Brasch-Andersen</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Ronan, Anne" sort="Ronan, Anne" uniqKey="Ronan A" first="Anne" last="Ronan">Anne Ronan</name><affiliation><nlm:affiliation>Hunter Genetics, Waratah, NSW 2298, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Anderson, Peter J" sort="Anderson, Peter J" uniqKey="Anderson P" first="Peter J" last="Anderson">Peter J. Anderson</name><affiliation><nlm:affiliation>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Powis, Zoe" sort="Powis, Zoe" uniqKey="Powis Z" first="Zöe" last="Powis">Zöe Powis</name><affiliation><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke H M" sort="Schuurs Hoeijmakers, Janneke H M" uniqKey="Schuurs Hoeijmakers J" first="Janneke H M" last="Schuurs-Hoeijmakers">Janneke H M. Schuurs-Hoeijmakers</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Lelieveld, Stefan" sort="Lelieveld, Stefan" uniqKey="Lelieveld S" first="Stefan" last="Lelieveld">Stefan Lelieveld</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. Vissers</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Koolen, David A" sort="Koolen, David A" uniqKey="Koolen D" first="David A" last="Koolen">David A. Koolen</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Testa, Giuseppe" sort="Testa, Giuseppe" uniqKey="Testa G" first="Giuseppe" last="Testa">Giuseppe Testa</name><affiliation><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy. Electronic address: giuseppe.testa@unimi.it.</nlm:affiliation></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.nl.</nlm:affiliation></affiliation></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acetylation</term><term>Adolescent</term><term>Base Sequence</term><term>Child, Preschool</term><term>Chromatin (metabolism)</term><term>Chromatin Immunoprecipitation</term><term>Cohort Studies</term><term>Enhancer Elements, Genetic (genetics)</term><term>Female</term><term>Gene Ontology</term><term>Haploinsufficiency (genetics)</term><term>Haplotypes (genetics)</term><term>Hemizygote</term><term>Histones (metabolism)</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Lymphocytes (metabolism)</term><term>Male</term><term>Methylation</term><term>Models, Molecular</term><term>Mutation, Missense (genetics)</term><term>Protein Binding (genetics)</term><term>Protein Domains</term><term>Transcription, Genetic</term><term>YY1 Transcription Factor (chemistry)</term><term>YY1 Transcription Factor (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>YY1 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>YY1 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Chromatin</term><term>Histones</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Enhancer Elements, Genetic</term><term>Haploinsufficiency</term><term>Haplotypes</term><term>Intellectual Disability</term><term>Mutation, Missense</term><term>Protein Binding</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lymphocytes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Acetylation</term><term>Adolescent</term><term>Base Sequence</term><term>Child, Preschool</term><term>Chromatin Immunoprecipitation</term><term>Cohort Studies</term><term>Female</term><term>Gene Ontology</term><term>Hemizygote</term><term>Humans</term><term>Male</term><term>Methylation</term><term>Models, Molecular</term><term>Protein Domains</term><term>Transcription, Genetic</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28575647</PMID><DateCreated><Year>2017</Year><Month>06</Month><Day>02</Day></DateCreated><DateCompleted><Year>2017</Year><Month>07</Month><Day>31</Day></DateCompleted><DateRevised><Year>2017</Year><Month>07</Month><Day>31</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN><JournalIssue CitedMedium="Internet"><Volume>100</Volume><Issue>6</Issue><PubDate><Year>2017</Year><Month>Jun</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.</ArticleTitle><Pagination><MedlinePgn>907-925</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0002-9297(17)30193-3</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2017.05.006</ELocationID><Abstract><AbstractText>Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.</AbstractText><CopyrightInformation>Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gabriele</LastName><ForeName>Michele</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vulto-van Silfhout</LastName><ForeName>Anneke T</ForeName><Initials>AT</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Germain</LastName><ForeName>Pierre-Luc</ForeName><Initials>PL</Initials><AffiliationInfo><Affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vitriolo</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kumar</LastName><ForeName>Raman</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Douglas</LastName><ForeName>Evelyn</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haan</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kosaki</LastName><ForeName>Kenjiro</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Takenouchi</LastName><ForeName>Toshiki</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rauch</LastName><ForeName>Anita</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Steindl</LastName><ForeName>Katharina</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frengen</LastName><ForeName>Eirik</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Misceo</LastName><ForeName>Doriana</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pedurupillay</LastName><ForeName>Christeen Ramane J</ForeName><Initials>CRJ</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stromme</LastName><ForeName>Petter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rosenfeld</LastName><ForeName>Jill A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shao</LastName><ForeName>Yunru</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Craigen</LastName><ForeName>William J</ForeName><Initials>WJ</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schaaf</LastName><ForeName>Christian P</ForeName><Initials>CP</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rodriguez-Buritica</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farach</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Friedman</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thulin</LastName><ForeName>Perla</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Utah, San Diego, CA 92123, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McLean</LastName><ForeName>Scott D</ForeName><Initials>SD</Initials><AffiliationInfo><Affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nugent</LastName><ForeName>Kimberly M</ForeName><Initials>KM</Initials><AffiliationInfo><Affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morton</LastName><ForeName>Jenny</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Birmingham Women's Hospital, B15 2TG Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicholl</LastName><ForeName>Jillian</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andrieux</LastName><ForeName>Joris</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stray-Pedersen</LastName><ForeName>Asbjørg</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chambon</LastName><ForeName>Pascal</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Patrier</LastName><ForeName>Sophie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>Sally A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kjaergaard</LastName><ForeName>Susanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tørring</LastName><ForeName>Pernille M</ForeName><Initials>PM</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brasch-Andersen</LastName><ForeName>Charlotte</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ronan</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Hunter Genetics, Waratah, NSW 2298, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Haeringen</LastName><ForeName>Arie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Anderson</LastName><ForeName>Peter J</ForeName><Initials>PJ</Initials><AffiliationInfo><Affiliation>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Powis</LastName><ForeName>Zöe</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brunner</LastName><ForeName>Han G</ForeName><Initials>HG</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pfundt</LastName><ForeName>Rolph</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schuurs-Hoeijmakers</LastName><ForeName>Janneke H M</ForeName><Initials>JHM</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Bon</LastName><ForeName>Bregje W M</ForeName><Initials>BWM</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author 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Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gecz</LastName><ForeName>Jozef</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Koolen</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Testa</LastName><ForeName>Giuseppe</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and 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