TY - JOUR
T1 - Retinoic acid receptor beta variant-related colonic hypoganglionosis
AU - Foster, Katharine J.
AU - Zhang, Stephanie Q.
AU - Braddock, Stephen R.
AU - Torti, Erin
AU - Chikarmane, Rashmi
AU - Sotelo-Avila, Cirilo
AU - Greenspon, Jose
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/5
Y1 - 2019/5
N2 - 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.
AB - 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.
KW - hypoganglionosis
KW - RARB
KW - retinoic acid
UR - http://www.scopus.com/inward/record.url?scp=85061917047&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.61078
DO - 10.1002/ajmg.a.61078
M3 - Article
C2 - 30790422
AN - SCOPUS:85061917047
SN - 1552-4825
VL - 179
SP - 817
EP - 821
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -