Liver failure and x-linked immunodeficiency type 47.
ATP6AP1
c.932/p.Leu311Gln
glycosylation
liver failure
x-linked immunodeficiency
Journal
Pediatric transplantation
ISSN: 1399-3046
Titre abrégé: Pediatr Transplant
Pays: Denmark
ID NLM: 9802574
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
13
11
2019
revised:
29
06
2020
accepted:
06
07
2020
pubmed:
14
8
2020
medline:
21
10
2021
entrez:
14
8
2020
Statut:
ppublish
Résumé
Patients with defects in the ATP6AP1 gene have rarely been described. ATP6AP1-related disorders are a subtype of CDG, which result in enzyme deficiencies affecting multiple organ systems ranging from mild to life-threatening. Of the 13 patients described, all had hepatopathy, but this is the first case to be successfully transplanted. We describe two brothers who developed hyperbilirubinemia shortly after birth and progressed to liver failure, case 1 by 12 months of age, with successful transplant 2 years later, and case 2 by 4 months of age, who passed away while awaiting liver transplant. Both boys were found to have a new variant in the ATP6AP1 gene: c.932/p.Leu311Gln. Although the identified ATP6AP1 gene variant was classified as unknown significance at the time, both children's phenotypes fit with what has been described for ATP6AP1-related disorders. Therefore, this result appears to have been diagnostic for both boys. This rare type of CDG, X-linked immunodeficiency type 47 (OMIM #300972), particularly in patients who progress to liver failure requiring transplant, should be included on the differential of liver failure in infants and toddlers, and its gene should be added to the diagnostic workup for such cases.
Substances chimiques
ATP6AP1 protein, human
0
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
EC 3.5.1.52
Vacuolar Proton-Translocating ATPases
EC 3.6.1.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e13808Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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