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- Title
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
- Authors
Lévy, Jonathan; Cogan, Guillaume; Maruani, Anna; Maillard, Arnaud; Dupont, Céline; Drunat, Séverine; Rachid, Myriam; Atzori, Paola; Delorme, Richard; Jeyarajah, Sabatini; Isidor, Bertrand; Pichon, Olivier; Moradkhani, Kamran; Verloes, Alain; Tabet, Anne‐Claude
- Abstract
Transcriptor co‐activator factor 20 gene (TCF20) encodes a nuclear chromatin‐binding protein involved in regulation of gene expression. In human pathology, pathogenic variants or deletions in TCF20 were identified in patients with developmental delay, variable intellectual disability and behavioral impairment (OMIM: 618430). The shared core phenotype includes developmental delay, hypotonia, motor delay, autism spectrum disorders, neurobehavioral anomalies, neurological features such as ataxia, seizures, movement disorders, structural brain anomalies, craniofacial features and various congenital anomalies. Most pathogenic variants are loss‐of‐function variants. Duplication including TCF20 was suspected to cause a neurodevelopmental disorder (NDD) with mirror traits compared to patients with TCF20 deletions. In the present study, we report three patients from three unrelated families with NDD with a de novo duplication at 22q13.2 encompassing TCF20. We propose that the TCF20 duplication could be involved in a new 22q13.2 microduplication syndrome with high penetrance, enlarging the genotype–phenotype knowledge of TCF20‐associated NDDs.
- Subjects
NEURAL development; GENETIC regulation; AUTISM spectrum disorders; MOVEMENT disorders; DEVELOPMENTAL delay; CHILDREN with autism spectrum disorders; CHILDREN with developmental disabilities
- Publication
Clinical Genetics, 2022, Vol 101, Issue 3, p364
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14099