Novel Copy Number Deletion Involving <i>NUS1</i> Associated With Epilepsy, Tremor, and Intellectual Disability
Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the <i>NUS1</i> gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.
Authors
- Gholson J. Lyon (ORCID: https://orcid.org/0000-0002-5869-0716)
- Elaine Marchi
- Daniah H. Ibrahim
- Karen Amble
- Jing Y. Hsu
- Maureen Gavin
- Riza Ali
Institutions
- The Graduate Center, CUNY (US)
- City University of New York (US)
- Rosalind Franklin University of Medicine and Science (US)
- New York State Office for People With Developmental Disabilities (US)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1002/ccr3.70022
- Citations
- 3
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Office for People With Developmental Disabilities