Ontology highlight
ABSTRACT:
SUBMITTER: Jannot AS
PROVIDER: S-EPMC3421120 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Jannot Anne-Sophie AS Amiel Jeanne J Pelet Anna A Lantieri Francesca F Fernandez Raquel M RM Verheij Joke B G M JB Garcia-Barcelo Merce M Arnold Stacey S Ceccherini Isabella I Borrego Salud S Hofstra Robert M W RM Tam Paul K H PK Munnich Arnold A Chakravarti Aravinda A Clerget-Darpoux Françoise F Lyonnet Stanislas S
European journal of human genetics : EJHG 20120307 9
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 ...[more]