| Title |
Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population
|
|---|---|
| Published in |
Molecular Neurobiology, January 2013
|
| DOI | 10.1007/s12035-012-8392-4 |
| Pubmed ID | |
| Authors |
Jun Yang, Shengyu Duan, Rong Zhong, Jieyun Yin, Jiarui Pu, Juntao Ke, Xuzai Lu, Li Zou, Hongmei Zhang, Zhidong Zhu, Depeng Wang, Huasheng Xiao, Anyuan Guo, Jiahong Xia, Xiaoping Miao, Shaotao Tang, Guobin Wang |
| Abstract |
Hirschsprung's disease (HSCR) is a complex developmental defect characterized by the absence of enteric ganglia in the gastrointestinal tract. Although the genetic defect of enteric nervous system (ENS) was identified to play a critical role in the progress of HSCR, the systemic genetic dissection of HSCR still needs to be clarified. In this study, we firstly performed exome sequencing of two HSCR patients from a Han Chinese family, including the affected mother and son. After the initial quality filtering (coverage ≥ 5X and SNP quality score ≥ 40) of the raw data, we identified 13,948 and 13,856 single nucleotide variants (SNVs), respectively. We subsequently compared the SNVs against public databases (dbSNP130, HapMap, and 1000 Genome Project) and obtained a total of 15 novel nonsynonymous SNVs in 15 genes, which were shared between these two patients. Follow-up Sanger sequencing and bioinformatics analysis highlighted variant c.853G>A (p.E285K) in NRG3, a gene involved in the development of ENS. In the validation phase, we sequenced all nine exons of NRG3 in 96 additional sporadic HSCR cases and 110 healthy individuals and identified another nonsynonymous variant c.1329G>A (p.M443I) and two synonymous variants c.828G>A (p.T276T) and c.1365T>A (p.P455P) only in the cases. Our results indicated that NRG3 may be a susceptibility gene for HSCR in a Chinese population. |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Russia | 1 | 4% |
| Unknown | 22 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 26% |
| Student > Ph. D. Student | 5 | 22% |
| Other | 2 | 9% |
| Professor > Associate Professor | 2 | 9% |
| Student > Master | 2 | 9% |
| Other | 2 | 9% |
| Unknown | 4 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 26% |
| Medicine and Dentistry | 6 | 26% |
| Biochemistry, Genetics and Molecular Biology | 2 | 9% |
| Veterinary Science and Veterinary Medicine | 1 | 4% |
| Sports and Recreations | 1 | 4% |
| Other | 3 | 13% |
| Unknown | 4 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 September 2023.
All research outputs
#8,759,452
of 25,837,817 outputs
Outputs from Molecular Neurobiology
#1,649
of 4,017 outputs
Outputs of similar age
#90,204
of 294,035 outputs
Outputs of similar age from Molecular Neurobiology
#9
of 17 outputs
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