ArticleEuropean journal of human genetics : EJHG2018
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Vinculin influences essential processes in enteric nervous system development and Hirschsprung disease pathogenesis.The Journal of clinical investigation · 2026Article
- Precision minimally invasive strategy for Hirschsprung's disease: from anatomical resection to whole-cycle functional management-a review.Frontiers in pediatrics · 2026Review
- Neuregulin 1 (NRG1) and its receptors in the enteric nervous system and other parts of the gastrointestinal wall.Histology and histopathology · 2024Review
- Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.Communications biology · 2024Article
- Genetics of Hirschsprung's disease.Pediatric surgery international · 2023Review
- Review
- Genetic Background Influences Severity of Colonic Aganglionosis and Response to GDNF Enemas in theInternational journal of molecular sciences · 2021Article
- Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.International journal of molecular sciences · 2021Review
- Cell-autonomous retinoic acid receptor signaling has stage-specific effects on mouse enteric nervous system.JCI insight · 2021Article
- Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.The Journal of clinical investigation · 2021Article
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression.PLoS genetics · 2020Article
- A random forest-based framework for genotyping and accuracy assessment of copy number variations.NAR genomics and bioinformatics · 2020Article
- Genetic variants inAging · 2020Article
- "Too much guts and not enough brains": (epi)genetic mechanisms and future therapies of Hirschsprung disease - a review.Clinical epigenetics · 2019Review
- Genome Resequencing Reveals Congenital Causes of Embryo and Nestling Death in Crested Ibis (Nipponia nippon).Genome biology and evolution · 2019Article
- The advances of genetics research on Hirschsprung's disease.Pediatric investigation · 2018Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung disease (HSCR) is a complex birth defect characterized by the lack of ganglion cells along a variable length of the distal intestine. A large proportion of HSCR patients remain genetically unexplained. We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadically affected with the most severe form of the disorder and harbor no coding sequence variants affecting the function of known HSCR genes. We found de novo protein-altering variants in three intolerant to change genes-CCT2, VASH1, and CYP26A1-for which a plausible link with the enteric nervous system (ENS) exists. De novo single-nucleotide and indel variants were present in introns and non-coding neighboring regions of ENS-related genes, including NRG1 and ERBB4. Joint analysis with those inherited rare variants found under recessive and/or digenic models revealed both patient-unique and shared genetic features where rare variants were found to be enriched in the extracellular matrix-receptor (ECM-receptor) pathway (p = 3.4 × 10
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