ReviewWorld journal of pediatrics : WJP2023
Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.
Review in World journal of pediatrics : WJP, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Pooled it
- Clinical characteristics, pathological comorbidities, BMI-for-age Z-score, and machine learning-based exploration of postoperative enterocolitis in iIntestinal neuronal dysplasia: a 20-year retrospective study.Pediatric surgery international · 2026Article
- A Novel Rapid 3D Tissue-Clearing and Staining Approach for Enteric Neurovascular Imaging and Pathology Applications.Diagnostics (Basel, Switzerland) · 2026Article
- Integrated genomic analysis of EDNRB common and rare variants in Hirschsprung disease.Genes & diseases · 2026Article
- Tracing the enteric neural crest cell pathway from origin to colonization: insights into Hirschsprung's disease.Molecular biology reports · 2025Review
- Exploring potential sex differences in Hirschsprung disease: a national cohort study of diagnostic patterns and early postoperative outcome.Pediatric surgery international · 2025Article
- Article
- Clinicopathologic features of allied disorders of Hirschsprung disease and status update.World journal of gastrointestinal surgery · 2025Review
- Scientific evolution from the definition of Hirschsprung disease to the present: a bibliometric analysis (1980-2023).Pediatric research · 2025Article
- Surgical and clinical determinants of postoperative Hirschsprung-associated enterocolitis: Multivariate analysis in a large cohort.Pediatric discovery · 2024Article
- Diagnostic accuracy of barium enema versus full-thickness rectal biopsy in children with clinically suspected Hirschsprung's disease: A comparative cross-sectional study.Health science reports · 2024Article
- Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR.Pediatric surgery international · 2023Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundHirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth, causing great physical and mental pain to patients and their families. Studies have shown that more than 20 genes are involved in HSCR, and most cases of HSCR are sporadic. However, the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%. Furthermore, familial HSCR patients show incomplete dominance. We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families.
methodsTo find published references, we used the title/abstract terms "Hirschsprung" and "familial" in the PubMed database and the MeSH terms "Hirschsprung" and "familial" in Web of Science. Finally, we summarized 129 HSCR families over the last 40 years.
resultsThe male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR. The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR. When one of the parents is a RET mutation carrier in an HSCR family, the offspring's recurrence risk is 28%, and the incidence of the offspring does not depend on whether the parent suffers from HSCR.
conclusionOur findings will help HSCR patients obtain better genetic counseling, calculate the risk of recurrence, and provide new insights for future pedigree studies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.