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Retinoic acid receptor beta variant‐related colonic hypoganglionosis |
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| Authors: | Katharine J Foster Stephanie Q Zhang Stephen R Braddock Rashmi Chikarmane Cirilo Sotelo‐Avila Jose Greenspon |
| Institution: | 1. https://orcid.org/0000-0001-7045-8138;2. Department of Surgery, Division of Pediatrics Saint Louis University School of Medicine, Saint Louis, Missouri;3. Katharine J. Foster, Saint Louis University School of Medicine, 1402 S Grand Blvd., St. Louis, MO 314‐977‐9870.;4. Department of Pediatrics, Division of Medical Genetics, Saint Louis University School of Medicine, Saint Louis, Missouri;5. Clinical Genomics Program, GeneDx, Gaithersburg, Maryland;6. Department of Pathology, Saint Louis University School of Medicine, Saint Louis, Missouri;7. Department of Surgery, Division of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri |
| 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: | hypoganglionosis RARB retinoic acid |