Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability

作者：Jing Y. Hsu, Daniah H. Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon · 发表于：Clinical Case Reports · 年份：2025 · DOI：10.1002/ccr3.70022 · 被引用次数：3 · 研究领域：Genomic variations and chromosomal abnormalities、Genomics and Rare Diseases、Congenital heart defects research

ABSTRACT 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 NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.