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Article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

European journal of human genetics : EJHG - 1 Sept 2012

Jannot Anne-Sophie, Amiel Jeanne, Pelet Anna, Lantieri Francesca, Fernandez Raquel M, Verheij Joke B G M, Garcia-Barcelo Merce, Arnold Stacey, Ceccherini Isabella, Borrego Salud, Hofstra Robert M W, Tam Paul K H, Munnich Arnold, Chakravarti Aravinda, Clerget-Darpoux Françoise, Lyonnet Stanislas

Abstract excerpt

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...

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Identifiers

PMID: 22395866
DOI: 10.1038/ejhg.2012.35
PMCID: PMC3421120

Genes

RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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