Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report
This is the first report of a structural variant in a patient with CSS8. This finding expands our genetic understanding of CSS8 and demonstrates the diagnostic utility of long-read sequencing in uncovering clinically relevant structural variants that may be missed by conventional methods.
Authors
- Madeeha Kamal
- Amal Ibrahim
- Elbay Aliyev (ORCID: https://orcid.org/0000-0002-6469-1854)
- Khalid A. Fakhro (ORCID: https://orcid.org/0000-0002-3150-1276)
- Saba F. Elhag
- Aljazi Al-Maraghi
- Sasirekha Palaniswamy
- Najeeb Syed (ORCID: https://orcid.org/0000-0003-0460-5237)
- Mona Abdi
- Waleed Aamer (ORCID: https://orcid.org/0000-0002-1324-3509)
- Ammira Al‐Shabeeb Akil (ORCID: https://orcid.org/0000-0001-5381-070X)
Institutions
- Qatar Airways (Qatar) (QA)
- Sidra Medical and Research Center (QA)
- Hamad bin Khalifa University (QA)
- Weill Cornell Medical College in Qatar (QA)
- Qatar University (QA)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1186/s12920-025-02269-3
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00