Retinoic acid receptor beta variant-related colonic hypoganglionosis.
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.
['Foster|Katharine J|KJ|0000-0001-7045-8138', 'Zhang|Stephanie Q|SQ|', 'Braddock|Stephen R|SR|', 'Torti|Erin|E|', 'Chikarmane|Rashmi|R|', 'Sotelo-Avila|Cirilo|C|', 'Greenspon|Jose|J|']
D000483:Alleles D003109:Colonic Diseases, Functional D003248:Constipation D059472:Exome D020022:Genetic Predisposition to Disease D014644:Genetic Variation D006801:Humans D007223:Infant D007413:Intestinal Mucosa D000073658:Loss of Function Mutation D008297:Male D011859:Radiography D018168:Receptors, Retinoic Acid D000073359:Whole Exome Sequencing
retinoic acid hypoganglionosis RARB