A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
AAMR
GMPPA
achalasia
congenital disorder of glycosylation
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
07
05
2022
received:
03
02
2022
accepted:
13
05
2022
pubmed:
7
6
2022
medline:
15
7
2022
entrez:
6
6
2022
Statut:
ppublish
Résumé
Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA-congenital disorder of glycosylation (CDG) should also be in the differential diagnosis. We report a 9-month-old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG. This rare disorder is commonly associated with developmental delay and intellectual disability. We discuss management of this disorder including the importance of confirming a genetic diagnosis and summarize reported cases.
Identifiants
pubmed: 35665995
doi: 10.1002/ajmg.a.62859
pmc: PMC9283290
mid: NIHMS1811002
doi:
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2438-2442Subventions
Organisme : NINDS NIH HHS
ID : U54 NS115198
Pays : United States
Informations de copyright
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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