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Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Ignatius, Erika; Puosi, Riina; Palomäki, Maarit; Forsbom, Noora; Pohjanpelto, Max; Alitalo, Tiina; Anttonen, Anna-Kaisa; Avela, Kristiina; Haataja, Leena; Carroll, Christopher J; Lönnqvist, Tuula; Isohanni, Pirjo.
Afiliação
  • Ignatius E; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Puosi R; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Palomäki M; Department of Radiology, HUS Medical Imaging Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Forsbom N; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Pohjanpelto M; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Alitalo T; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Anttonen AK; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Avela K; Department of Clinical Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Haataja L; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Carroll CJ; Genetics Research Centre, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom.
  • Lönnqvist T; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Isohanni P; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland. Electronic address: pirjo.isoh
Eur J Paediatr Neurol ; 37: 1-7, 2022 Mar.
Article em En | MEDLINE | ID: mdl-34999443
ABSTRACT
Deleterious variants in the transcription factor early B-cell factor 3 (EBF3) are known to cause a neurodevelopmental disorder (EBF3-NDD). We report eleven individuals with EBF3 variants, including an individual with a duplication/triplication mosaicism of a region encompassing EBF3 and a phenotype consistent with EBF3-NDD, which may reflect the importance of EBF3 gene-dosage for neurodevelopment. The phenotype of individuals in this cohort was quite mild compared to the core phenotype of previously described individuals. Although ataxia tended to wane with age, we show that cognitive difficulties may increase, and we recommend that individuals with EBF3-NDD have systematic neuropsychological follow-up.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Transtornos do Neurodesenvolvimento / Mosaicismo Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Transtornos do Neurodesenvolvimento / Mosaicismo Idioma: En Ano de publicação: 2022 Tipo de documento: Article