利用全外显子组测序（WES）数据的拷贝数变异（CNV）方法鉴定出导致卡贝萨斯综合征的一个22.5 kb的缺失。
A 22.5 kb deletion in causing Cabezas syndrome identified using CNV approach from WES data.
作者信息
López Maria, Pérez-Grijalba Virginia, García-Cobaleda Inmaculada, Domínguez-Garrido Elena
机构信息
Molecular Diagnostics Laboratory Fundación Rioja Salud Logroño Spain.
Unidad de Diagnóstico y Asesoramiento Genético Hospital Universitario Nuestra Sra de Candelaria Santa Cruz de Tenerife Spain.
出版信息
Clin Case Rep. 2020 Sep 29;8(12):3184-3188. doi: 10.1002/ccr3.3381. eCollection 2020 Dec.
Abstract
Detecting clinical grade CNV based on WES is being improved in the NGS era.
摘要
在新一代测序（NGS）时代，基于全外显子组测序（WES）检测临床级别的拷贝数变异（CNV）技术正在不断改进。
相似文献
1
A 22.5 kb deletion in causing Cabezas syndrome identified using CNV approach from WES data.
Clin Case Rep. 2020 Sep 29;8(12):3184-3188. doi: 10.1002/ccr3.3381. eCollection 2020 Dec.
2
Genome-first approach diagnosed Cabezas syndrome via novel mutation detection.
Hum Genome Var. 2017 Jan 19;4:16045. doi: 10.1038/hgv.2016.45. eCollection 2017.
3
Importance of Genetic Diagnosis in Global Developmental Delay: A Case of Cabezas Syndrome Caused by CUL4B Gene Deletion and Not Identified by Array-CHG.
Cureus. 2023 Sep 26;15(9):e46010. doi: 10.7759/cureus.46010. eCollection 2023 Sep.
4
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.
Mol Cytogenet. 2017 Aug 23;10:30. doi: 10.1186/s13039-017-0333-5. eCollection 2017.
5
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29.
6
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Am J Med Genet A. 2017 Oct;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17.
7
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. Epub 2009 Dec 10.
8
XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons.
Biochim Biophys Acta. 2013 Apr;1832(4):585-93. doi: 10.1016/j.bbadis.2013.01.010. Epub 2013 Jan 22.
9
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Am J Med Genet A. 2020 Jan;182(1):219-223. doi: 10.1002/ajmg.a.61416. Epub 2019 Nov 15.
10
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability.
Clin Chim Acta. 2023 Jan 1;538:94-103. doi: 10.1016/j.cca.2022.10.023. Epub 2022 Nov 8.
引用本文的文献
1
Case Report: Cabezas syndrome caused by gene mutations in two unrelated Chinese boys.
Front Neurosci. 2025 Jul 21;19:1600852. doi: 10.3389/fnins.2025.1600852. eCollection 2025.
2
Importance of Genetic Diagnosis in Global Developmental Delay: A Case of Cabezas Syndrome Caused by CUL4B Gene Deletion and Not Identified by Array-CHG.
Cureus. 2023 Sep 26;15(9):e46010. doi: 10.7759/cureus.46010. eCollection 2023 Sep.
3
-associated Chung-Jansen syndrome: Report of 23 new individuals.
Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022.
本文引用的文献
1
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Am J Med Genet A. 2017 Oct;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17.
2
Genome-first approach diagnosed Cabezas syndrome via novel mutation detection.
Hum Genome Var. 2017 Jan 19;4:16045. doi: 10.1038/hgv.2016.45. eCollection 2017.
3
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
PLoS Comput Biol. 2016 Apr 21;12(4):e1004873. doi: 10.1371/journal.pcbi.1004873. eCollection 2016 Apr.
4
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718.
5
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Am J Med Genet A. 2014 Sep;164A(9):2294-9. doi: 10.1002/ajmg.a.36629. Epub 2014 Jun 4.
6
Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
Clin Genet. 2012 Sep;82(3):292-4. doi: 10.1111/j.1399-0004.2011.01839.x. Epub 2012 Jan 11.
7
CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
Mech Ageing Dev. 2011 Aug;132(8-9):366-73. doi: 10.1016/j.mad.2011.02.003. Epub 2011 Feb 23.
8
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22.
9
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.
Am J Med Genet A. 2010 Jan;152A(1):175-80. doi: 10.1002/ajmg.a.33152.
10
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. Epub 2009 Dec 10.
Zotero 插件