ArticlePLoS genetics2012
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Human molecular genetics · 2016Pooled it
- A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.The Journal of clinical investigation · 2015Trial
- Plasma-derived exosomal miR-34a-5p: a potential diagnostic biomarker for total colonic aganglionosis.Translational pediatrics · 2025Article
- Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases.Frontiers in pediatrics · 2023Review
- Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.PLoS genetics · 2021Article
- NOX5 is expressed aberrantly but not a critical pathogenetic gene in Hirschsprung disease.BMC pediatrics · 2021Article
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- A random forest-based framework for genotyping and accuracy assessment of copy number variations.NAR genomics and bioinformatics · 2020Article
- miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.Bioscience reports · 2020Article
- Association of Variants inFrontiers in genetics · 2020Article
- Negative Association Between lncRNAPharmacogenomics and personalized medicine · 2020Article
- Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.Orphanet journal of rare diseases · 2019Article
- Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.Journal of cellular and molecular medicine · 2018Article
- Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease.Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2018Article
- Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.European journal of human genetics : EJHG · 2018Article
- Article
- 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
- Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment.BMC genomics · 2017Article
- Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.Molecular neurobiology · 2017Article
- Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Scientific reports · 2017Article
Corrections and comments
- Erratum issuedScherer, Steve [corrected to Scherer, Stephen W].
Authors and funding
23 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of copy number variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients, whereby we identified NRG1 as a new HSCR susceptibility locus. Analysis of 129 Chinese patients and 331 ethnically matched controls showed that HSCR patients have a greater burden of rare CNVs (p = 1.50 × 10(-5)), particularly for those encompassing genes (p = 5.00 × 10(-6)). Our study identified 246 rare-genic CNVs exclusive to patients. Among those, we detected a NRG3 deletion (p = 1.64 × 10(-3)). Subsequent follow-up (96 additional patients and 220 controls) on NRG3 revealed 9 deletions (combined p = 3.36 × 10(-5)) and 2 de novo duplications among patients and two deletions among controls. Importantly, NRG3 is a paralog of NRG1. Stratification of patients by presence/absence of HSCR-associated syndromes showed that while syndromic-HSCR patients carried significantly longer CNVs than the non-syndromic or controls (p = 1.50 × 10(-5)), non-syndromic patients were enriched in CNV number when compared to controls (p = 4.00 × 10(-6)) or the syndromic counterpart. Our results suggest a role for NRG3 in HSCR etiology and provide insights into the relative contribution of structural variants in both syndromic and non-syndromic HSCR. This would be the first genome-wide catalog of copy number variants identified in HSCR.
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