ArticleMolecular neurobiology2013
Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.
Article in Molecular neurobiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 32 citations in OpenAlex.
- High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Pediatric surgery international · 2024Article
- The Long Noncoding RNA Cardiac Mesoderm Enhancer-Associated Noncoding RNA (Carmn) Is a Critical Regulator of Gastrointestinal Smooth Muscle Contractile Function and Motility.Gastroenterology · 2023Article
- Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.International journal of molecular sciences · 2021Review
- ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease.International journal of molecular sciences · 2020Article
- Association of Variants inFrontiers in genetics · 2020Article
- The advances of genetics research on Hirschsprung's disease.Pediatric investigation · 2018Review
- Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.Journal of cellular and molecular medicine · 2018Article
- Neuregulin 3 and its roles in schizophrenia risk and presentation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018Review
- Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.Nature reviews. Gastroenterology & hepatology · 2018Review
- Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.Cancer biomarkers : section A of Disease markers · 2017Article
- Applying Systems Biology Methodology To Identify Genetic Factors Possibly Associated with Recovery after Traumatic Brain Injury.Journal of neurotrauma · 2017Article
- Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Scientific reports · 2017Article
- Article
- Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Scientific reports · 2015Article
- Review
- Association claims in the sequencing era.Genes · 2014Article
- Characterization of interstitial Cajal progenitors cells and their changes in Hirschsprung's disease.PloS one · 2014Article
- Article
- Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.PloS one · 2013Article
- Functional polymorphisms in FAS/FASL system increase the risk of neuroblastoma in Chinese population.PloS one · 2013Article
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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