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. 2025 Jan 8;13(1):e70022.
doi: 10.1002/ccr3.70022. eCollection 2025 Jan.

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

Jing Y Hsu  1   2 , Daniah H Ibrahim  1   2 , Riza Ali  1   2 , Elaine Marchi  2 , Maureen Gavin  3 , Karen Amble  3 , Gholson J Lyon  2   3   4
Affiliations

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

Jing Y Hsu et al. Clin Case Rep. .

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.

Keywords: DNA copy number variations; NUS1 protein; epilepsy; intellectual disability; protein glycosylation.

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