Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome

Published:2020-03-13 Issue:8 Volume:70 Page:1225-1228
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Kaushik Pankhuri,Mahajan Naresh,Girimaji Satish C.,Kumar Arun

Funder

Science and Engineering Research Board

Department of Science and Technology, Ministry of Science and Technology

UGC-SAP

Department of Biotechnology , Ministry of Science and Technology

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-020-01530-x.pdf

Reference16 articles.

1. Abe A, Yamamoto Y, Katsumi A, Okamoto A, Tokuda M, Inaguma Y, Yamamoto K, Yanada M, Kanie T, Tomita A, Akatsuka Y, Okamoto M, Kameyama T, Mayeda A, Emi N (2018) Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1–RUNX1T1 leukemia with t (8;12;21). Int J Hematol 108:208–212

2. Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J (2003) Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 40:233–241

3. Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ (1973) A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. J Pediatr 83:280–284

4. Dastan J, Chijiwa C, Tang F, Martell S, Qiao Y, Rajcan-Separovic E, Lewis S (2016) Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. BMC Med Genet 17:78

5. Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N, Gigot N, Aral B, Carmignac V, Thevenon J, Lopez E, Rivière JB, Klein A, Philippe C, Droin N, Blair E, Girodon F, Donadieu J, Bellanné-Chantelot C, Delva L, Michalski JC, Solary E, Faivre L, Foulquier F, Thauvin-Robinet C (2014) Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet 23:2391–2399

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide;2024-02-21

2. Next Generation Sequencing in presumptive diagnosis of syndromes in childhood retinal dystrophies - case series from India;Human Gene;2024-02

3. Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy;Case Reports in Ophthalmology;2023-10-06

4. Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome;The Journal of Pediatrics;2023-01

5. Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing;Pharmacogenomics and Personalized Medicine;2021-12

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3