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A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

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Title: A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.
Authors: Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands., de Oliveira BC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil., Carvalho LML; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.; Cajal Institute, Spanish National Research Council (CSIC), Madrid, Spain., Zhao X; Baylor Genetics, Houston, TX, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Sadikovic B; Verspeeten Clinical Genome Center, London Health Sciences Center, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Sim T; Baylor Genetics, Houston, TX, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Rigobello R; Baylor Genetics, Houston, TX, United States., Tedder M; Greenwood Genetic Center, Greenwood, SC, United States., Donoghue S; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Maripuri DP; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Hnizda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia., Barr E; Baylor Genetics, Houston, TX, United States., Fletcher R; Greenwood Genetic Center, Greenwood, SC, United States., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States., Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States., Barrero MJ; Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), Madrid, Spain.; Undiagnosed Diseases Program (SpainUDP), Madrid, Spain., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
Source: Frontiers in genetics [Front Genet] 2026 Jun 26; Vol. 17, pp. 1824138. Date of Electronic Publication: 2026 Jun 26 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.
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  Data: <searchLink fieldCode="AU" term="%22Rots+D%22">Rots D</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Oliveira+BC%22">de Oliveira BC</searchLink>; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Carvalho+LML%22">Carvalho LML</searchLink>; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.; Cajal Institute, Spanish National Research Council (CSIC), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Zhao+X%22">Zhao X</searchLink>; Baylor Genetics, Houston, TX, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Center, London Health Sciences Center, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Sim+T%22">Sim T</searchLink>; Baylor Genetics, Houston, TX, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Rigobello+R%22">Rigobello R</searchLink>; Baylor Genetics, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Tedder+M%22">Tedder M</searchLink>; Greenwood Genetic Center, Greenwood, SC, United States.<br /><searchLink fieldCode="AU" term="%22Donoghue+S%22">Donoghue S</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Maripuri+DP%22">Maripuri DP</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Hnizda+A%22">Hnizda A</searchLink>; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Barr+E%22">Barr E</searchLink>; Baylor Genetics, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Fletcher+R%22">Fletcher R</searchLink>; Greenwood Genetic Center, Greenwood, SC, United States.<br /><searchLink fieldCode="AU" term="%22Noskova+L%22">Noskova L</searchLink>; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Barrero+MJ%22">Barrero MJ</searchLink>; Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), Madrid, Spain.; Undiagnosed Diseases Program (SpainUDP), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Krepischi+ACV%22">Krepischi ACV</searchLink>; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Strong+A%22">Strong A</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 Jun 26; Vol. 17, pp. 1824138. <i>Date of Electronic Publication: </i>2026 Jun 26 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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