Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability
A familial germline exon 3 <i>NSD1</i> deletion was associated with mild Sotos syndrome phenotype with variable expressivity and a DNA methylation episignature that was less marked in milder cases than in individuals with classical Sotos syndrome. These findings support the use of methylation episignature analysis to explore intrafamilial variability in chromatin disorders.
Authors
- Fay Rodger (ORCID: https://orcid.org/0000-0002-0214-6287)
- Meena Balasubramanian (ORCID: https://orcid.org/0000-0003-1488-3695)
- Jose‐Ezequiel Martín (ORCID: https://orcid.org/0000-0002-0051-8868)
- France Docquier
- Bryndís Yngvadóttir (ORCID: https://orcid.org/0000-0002-7429-2961)
- Ana Luisa Toribio (ORCID: https://orcid.org/0000-0002-0101-4258)
- Eguzkine Ochoa (ORCID: https://orcid.org/0000-0002-1506-9065)
- Marc Tischkowitz (ORCID: https://orcid.org/0000-0002-7880-0628)
- Eamonn R. Maher (ORCID: https://orcid.org/0000-0002-6226-6918)
- Sunwoo Lee (ORCID: https://orcid.org/0000-0003-2806-3268)
- Alison Foster (ORCID: https://orcid.org/0000-0002-0216-3909)
- Mary O’Driscoll
- Dalit May
- Ruth Armstrong (ORCID: https://orcid.org/0000-0002-7958-2829)
- Ciara Batterton
Institutions
- Aston University (GB)
- University of Cambridge (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Sheffield Children's NHS Foundation Trust (GB)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- University of Sheffield (GB)
Publication Details
- Journal
- Genes
- Published
- 2025-10-13
- DOI
- https://doi.org/10.3390/genes16101190
- Primary Topic
- Epigenetics and DNA Methylation
- Type
- article
- Field-Weighted Citation Impact
- 0.00