Retinoic acid receptor beta variant-related colonic hypoganglionosis

Am J Med Genet A. 2019 May;179(5):817-821. doi: 10.1002/ajmg.a.61078. Epub 2019 Feb 20.

Abstract

Retinoic acid receptor beta (RARB) variants are heavily linked to pathologies of neural crest cell migration. The purpose of this report is to present a 23-month-old male with the previously described R387C RARB gain-of-function variant whose gastrointestinal issues and long-term constipation lead to the discovery of colonic hypoganglionosis. This case further delineates the pattern of malformation associated with RARB variants. The findings are also consistent with the known etiology of aganglionic colon due to failed neural crest cell migration.

Keywords: RARB; hypoganglionosis; retinoic acid.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Colonic Diseases, Functional / diagnosis*
  • Colonic Diseases, Functional / etiology*
  • Constipation / diagnosis*
  • Constipation / etiology*
  • Exome
  • Exome Sequencing
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • Infant
  • Intestinal Mucosa / metabolism
  • Intestinal Mucosa / pathology
  • Loss of Function Mutation
  • Male
  • Radiography
  • Receptors, Retinoic Acid / genetics*

Substances

  • Receptors, Retinoic Acid
  • retinoic acid receptor beta