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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.

DOI:10.1002/ccr3.70022
PMID:39780902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11710847/
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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Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.糖基化先天性异常中氧化固醇和 N-棕榈酰-O-磷酸丝氨酸水平升高。
J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3.
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Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.低频和罕见的 NUS1 编码变异与帕金森病的易感性和表型有关。
Neurobiol Aging. 2022 Feb;110:106-112. doi: 10.1016/j.neurobiolaging.2021.09.003. Epub 2021 Sep 17.
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Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated Variant.病例报告：一名携带截短变异体的患有癫痫发作和智力残疾的中国男孩的临床特征
Front Pediatr. 2021 Aug 31;9:725231. doi: 10.3389/fped.2021.725231. eCollection 2021.
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Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.基于证据的扩张型心肌病相关基因评估。
Circulation. 2021 Jul 6;144(1):7-19. doi: 10.1161/CIRCULATIONAHA.120.053033. Epub 2021 May 5.
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