Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2018-10-18

AUTHORS

Kai Gao , Yujia Zhang , Ling Zhang , Weijing Kong , Han Xie , Jingmin Wang , Ye Wu , Xiru Wu , Xiaoyan Liu , Yuehua Zhang , Feng Zhang , Albert Cheung-Hoi Yu , Yuwu Jiang

ABSTRACT

Epilepsy is one of the most common complex neurological diseases. It is frequently associated with intellectual and developmental disabilities (ID/DD). In recent years, copy number variation (CNV), especially microdeletion, was proven to be a potential key factor of genetic epilepsy. In this paper, the authors tested the hypothesis that the large de novo rare CNV is an important cause of epilepsy with ID/DD. We performed a custom array comparative genomic hybridization (aCGH) to detect the CNVs of 96 Chinese epileptic patients with ID/DD. The aCGH was designed with a higher density probe coverage of 320 genes known to be involved in epilepsy and ID/DD with lower density whole-genome backbone coverage. We detected 9 large de novo rare microdeletions from 8 patients. These CNVs are located on 2q24.1, 2q33.1-q34, 5q13.2 (2 similar CNVs), 5q33.1-q34, 17p13.2, 22q11.21-q11.22 (2 identical CNVs) and Xp22.31. We also found that only a few genes in the CNVs are known epilepsy related genes. By analysis with systems biology, we found most of the genes are interacting genes known to be epilepsy related genes. We also found a gene motif "BGNADP", constructed by BTD, GALNT10, NMUR2, AUTS2, DLG2 and PTPRD, would be a key motif in epilepsy and ID/DD. These findings strongly indicate that some large de novo rare microdeletion is an important pathological cause of epilepsy with ID/DD. Our study also found a gene motif "BGNADP" should be a key small network in epilepsy with ID/DD. More... »

PAGES

247-266

References to SciGraph publications

Book

TITLE

Systems Neuroscience

ISBN

978-3-319-94591-0
978-3-319-94593-4

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-319-94593-4_9

DOI

http://dx.doi.org/10.1007/978-3-319-94593-4_9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107688920

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30334225


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