Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation

Valentina Rossi, Manuela Mosconi, Paolo Nozza, Daniele Murgia, Girolamo Mattioli, Isabella Ceccherini, Alessio Pini Prato

Research output: Contribution to journalArticlepeer-review


Chronic intestinal pseudo obstruction (CIPO) is a rare clinical entity characterized by symptoms and signs of intestinal obstruction without either recognizable anatomical abnormalities or intestinal aganglionosis. A Chinese female infant presented to our institution with a clinical diagnosis of CIPO. Aganglionosis was ruled out by full thickness colonic and ileal biopsies and by rectal suction biopsies. Unexpectedly, direct sequencing and PCR amplification of RET proto-oncogene from peripheral blood extracted DNA identified a RET R114H mutation. This mutation has already been reported as strongly associated with Asian patients affected by Hirschsprung's disease (HSCR) and is considered a founder mutation in Asia. The same mutation has never been reported in patients with CIPO, so far. These findings support the role of RET in the development of the enteric nervous system but underline the importance of other genetic or environmental factors contributing to the gastrointestinal phenotype of the disease. Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
Publication statusAccepted/In press - 2016


  • Chronic-intestinal-pseudo-obstruction
  • Hirschsprung
  • RET R114H mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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