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

Jing Y Hsu; Daniah H Ibrahim; Riza Ali; Elaine Marchi; Maureen Gavin; Karen Amble; Gholson J Lyon

doi:10.1002/ccr3.70022

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

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

Authors

Jing Y Hsu^{1

2}, Daniah H Ibrahim^{1

2}, Riza Ali^{1

2}, Elaine Marchi², Maureen Gavin³, Karen Amble³, Gholson J Lyon^{2

3

4}

Affiliations

¹ Rosalind Franklin University of Medicine and Science Chicago Illinois USA.
² Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.
³ George A. Jervis Clinic New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.
⁴ The Graduate Center The City University of New York New York New York USA.

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.