Neurodevelopmental disorder and juvenile-onset tics associated with microdeletion of the SRRM2 gene
To date, a total of 37 cases presenting with loss-of-function mutations in SRRM2 have been reported as neurodevelopmental disease-causing mutations. Of these, 21 were males and none had tics as part of their neurodevelopmental manifestations. Our case report widens the spectrum of neurodevelopmental disorders observed in the context of SRRM2 gene microdeletions and prompts further research to disentangle the contributions of genetic and environmental factors to variable phenotypic expressions.
Authors
- Renata Nacinovich (ORCID: https://orcid.org/0000-0002-3832-2860)
- Virginia Caimi
- Stefano Seri (ORCID: https://orcid.org/0000-0002-9247-8102)
- Andrea E. Cavanna (ORCID: https://orcid.org/0000-0003-0925-1255)
- Anna Riva (ORCID: https://orcid.org/0000-0002-2898-094X)
- Gabriele Arienti (ORCID: https://orcid.org/0009-0003-1608-2821)
- Elisa Capriolo
Institutions
- Aston University (GB)
- Birmingham and Solihull Mental Health NHS Foundation Trust (GB)
- Azienda Ospedaliera San Gerardo (IT)
- University of Milano-Bicocca (IT)
- University of Birmingham (GB)
Publication Details
- Journal
- Neurological Sciences
- Published
- 2025-06-22
- DOI
- https://doi.org/10.1007/s10072-025-08318-0
- Citations
- 1
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 1.43