涉及癫痫、震颤和智力残疾的新型拷贝数缺失。
Novel Copy Number Deletion Involving Associated With Epilepsy, Tremor, and Intellectual Disability.
作者信息
Hsu Jing Y, Ibrahim Daniah H, Ali Riza, Marchi Elaine, Gavin Maureen, Amble Karen, Lyon Gholson J
机构信息
Rosalind Franklin University of Medicine and Science Chicago Illinois USA.
Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.
出版信息
Clin Case Rep. 2025 Jan 8;13(1):e70022. doi: 10.1002/ccr3.70022. eCollection 2025 Jan.
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 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.
摘要
拷贝数变异（CNVs）与多种疾病有关，包括智力残疾、发育障碍和癌症。本研究在6q22.1_q22.31区域发现了一个2.62Mb的新生缺失，提示该基因与癫痫、脊柱异常和智力残疾有关，从而扩展了其已知的表型关联。
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