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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

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Title: Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Authors: Ghasemi MR; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fateh ST; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; University Claude Bernard Lyon 1, Lyon, France., Chatron N; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; University Claude Bernard Lyon 1, Lyon, France., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Edery P; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; GENDEV Team, INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, Lyon, France., Sadeghi H; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Schulz HL; Zentrum für Humangenetik Tübingen, Tübingen, Germany., Krauspe-Stübecke I; Bethlehem Health Center Department of Pediatrics and Adolescent Medicine 5, Stolberg, Germany., Periyasamy R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Mirfakhraie R; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Syrbe S; Division for Pediatric Epileptology, Heidelberg University Hospital, Heidelberg, Germany., Pfeifer U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Grundmann-Hauser K; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Papadopoulou MT; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France., da Silva Gonçalves T; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France., Panagiotakaki E; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France., Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France.; Sant Joan De Déu Children's Hospital, Member of the ERN EpiCARE, University of Barcelona, Institut de Recerca Sant Joan de Déu, Spain., Tonekaboni SH; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran., Rossi M; GENDEV Team, INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, Lyon, France.; Department of Genetics, Lyon University Hospitals, Lyon, France., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Science Center and Children's Hospital, New Orleans, Louisiana, USA., Jang MH; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, Piscataway, New Jersey, USA., Layman LC; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, Georgia, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, Georgia, USA., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, Piscataway, New Jersey, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63963. Date of Electronic Publication: 2024 Dec 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
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  Data: <searchLink fieldCode="AU" term="%22Ghasemi+MR%22">Ghasemi MR</searchLink>; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Fateh+ST%22">Fateh ST</searchLink>; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Ben-Mahmoud+A%22">Ben-Mahmoud A</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Gupta+V%22">Gupta V</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Stühn+LG%22">Stühn LG</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; University Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; University Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Edery+P%22">Edery P</searchLink>; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; GENDEV Team, INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Sadeghi+H%22">Sadeghi H</searchLink>; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Schulz+HL%22">Schulz HL</searchLink>; Zentrum für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Krauspe-Stübecke+I%22">Krauspe-Stübecke I</searchLink>; Bethlehem Health Center Department of Pediatrics and Adolescent Medicine 5, Stolberg, Germany.<br /><searchLink fieldCode="AU" term="%22Periyasamy+R%22">Periyasamy R</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India.<br /><searchLink fieldCode="AU" term="%22Mirfakhraie+R%22">Mirfakhraie R</searchLink>; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Alijanpour+S%22">Alijanpour S</searchLink>; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Division for Pediatric Epileptology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Pfeifer+U%22">Pfeifer U</searchLink>; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Grundmann-Hauser+K%22">Grundmann-Hauser K</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Papadopoulou+MT%22">Papadopoulou MT</searchLink>; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France.<br /><searchLink fieldCode="AU" term="%22da+Silva+Gonçalves+T%22">da Silva Gonçalves T</searchLink>; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France.<br /><searchLink fieldCode="AU" term="%22Panagiotakaki+E%22">Panagiotakaki E</searchLink>; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France.<br /><searchLink fieldCode="AU" term="%22Arzimanoglou+A%22">Arzimanoglou A</searchLink>; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France.; Sant Joan De Déu Children's Hospital, Member of the ERN EpiCARE, University of Barcelona, Institut de Recerca Sant Joan de Déu, Spain.<br /><searchLink fieldCode="AU" term="%22Tonekaboni+SH%22">Tonekaboni SH</searchLink>; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Rossi+M%22">Rossi M</searchLink>; GENDEV Team, INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, Lyon, France.; Department of Genetics, Lyon University Hospitals, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Korenke+GC%22">Korenke GC</searchLink>; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lacassie+Y%22">Lacassie Y</searchLink>; Division of Genetics, Department of Pediatrics, Louisiana State University Health Science Center and Children's Hospital, New Orleans, Louisiana, USA.<br /><searchLink fieldCode="AU" term="%22Jang+MH%22">Jang MH</searchLink>; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, Piscataway, New Jersey, USA.<br /><searchLink fieldCode="AU" term="%22Layman+LC%22">Layman LC</searchLink>; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, Georgia, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Miryounesi+M%22">Miryounesi M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Kim+HG%22">Kim HG</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, Piscataway, New Jersey, USA.
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