Retinoic acid receptor beta variant-related colonic hypoganglionosis

Katharine J. Foster; Stephanie Q. Zhang; Stephen R. Braddock; Erin Torti; Rashmi Chikarmane; Cirilo Sotelo-Avila; Jose Greenspon

doi:10.1002/ajmg.a.61078

Retinoic acid receptor beta variant-related colonic hypoganglionosis

Katharine J. Foster
, Stephanie Q. Zhang
, Stephen R. Braddock
, Erin Torti
, Rashmi Chikarmane
, Cirilo Sotelo-Avila
, Jose Greenspon

Division of Allergy & Immunology

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English
Pages (from-to)	817-821
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	179
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.61078
State	Published - May 2019

Keywords

hypoganglionosis
RARB
retinoic acid

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10.1002/ajmg.a.61078

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title = "Retinoic acid receptor beta variant-related colonic hypoganglionosis",

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",

author = "Foster, \{Katharine J.\} and Zhang, \{Stephanie Q.\} and Braddock, \{Stephen R.\} and Erin Torti and Rashmi Chikarmane and Cirilo Sotelo-Avila and Jose Greenspon",

note = "Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

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doi = "10.1002/ajmg.a.61078",

language = "English",

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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

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 - https://www.scopus.com/pages/publications/85061917047

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EP - 821

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 5

ER -

Retinoic acid receptor beta variant-related colonic hypoganglionosis

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