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Article

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.

PloS one - 1 Jan 2011

Jiang Qian, Ho Yen-Yi, Hao Li, Nichols Berrios Courtney, Chakravarti Aravinda

Abstract excerpt

Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, length of aganglionosis, familiality and the presence of additional anomalies. By molecular genetic analysis, a minimum of 11 neuro-developmental genes (RET, GDNF, NRTN, SOX10, EDNRB, EDN3, ECE1,...

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Source

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Identifiers

PMID: 21712996
DOI: 10.1371/journal.pone.0021219
PMCID: PMC3119685

Genes

RET
ECE1
EDN3
EDNRB
GDNF
MAPK10
NRG1
NRTN
SOX10
SOX2
TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.PMID 21712996Read ↗

Size matters: large copy number losses reveal novel Hirschsprung disease genesSemantic proximity Read ↗

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.Semantic proximity Read ↗

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.Semantic proximity Read ↗

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical ApplicationsSemantic proximity Read ↗

The Role of <i>de novo</i> and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of PatientsSemantic proximity Read ↗

Whole-genome analysis of noncoding genetic variations identifies multigranular regulatory element perturbations associated with Hirschsprung diseaseSemantic proximity Read ↗

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.Semantic proximity Read ↗

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.Semantic proximity Read ↗

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.Semantic proximity Read ↗

Multiple, independent, common variants overlapping known and putative gut enhancers at <i>RET</i> , <i>SEMA3</i> and <i>NRG1</i> underlie Hirschsprung disease risk in European ancestry subjectsSemantic proximity Read ↗

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.Semantic proximity Read ↗

Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.Semantic proximity Read ↗

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