ArticleEuropean journal of human genetics : EJHG2012
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- A systematic review and meta-analysis of GFAP gene variants in Alexander disease.Scientific reports · 2024Pooled it
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.Bioscience reports · 2020Article
- Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.Orphanet journal of rare diseases · 2019Article
- A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.PloS one · 2014Article
- Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.PloS one · 2013Article
- Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Pediatric surgery international · 2012Review
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Authors and funding
16 authors at 11 institutions in 6 countries.
Funding
Abstract
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial cases). An asymmetrical parental origin is observed for RET coding sequence mutations with a higher maternal inheritance. A parent-of-origin effect is usually assumed. Here we show that a differential reproductive rate for males and females also leads to an asymmetrical parental origin, which was never considered as a possible explanation till now. In the case of HSCR, we show a positive association between penetrance of the mutation and parental transmission asymmetry: no parental transmission asymmetry is observed in sporadic RET CDS mutation carrier cases for which penetrance of the mutation is low, whereas a parental transmission asymmetry is observed in affected sib-pairs for which penetrance of the mutation is higher. This allows us to conclude that the explanation for this parental asymmetry is that more severe mutations have resulted in a differential reproductive rate between male and female carriers.
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