Open AccessCongenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report
Author(s) -
Xia Yang,
Zili Lv,
Qing Tang,
Xiuqi Chen,
Li Huang,
Mina Yang,
Lian-Cheng Lan,
Qing-Wen Shan
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i26.7876
Subject(s) - medicine , glycosylation , mutation , gene mutation , gene , genetics , pediatrics , biology
The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases (V-ATPase) is located on chromosome Xq28. Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation (CDG). CDG is a group of metabolic disorders in which defective protein and lipid glycosylation processes affect multiple tissues and organs. Therefore, the clinical presentation of patients with ATP6AP1 -CDG varies widely. In this report, we present a case of ATP6AP1 -CDG in a Chinese infant, with clinical features and genotype.