A New Mutation in
Hunter syndrome
IDS
iduronate-2-sulfatase
inborn errors of metabolism
lisossomal storage disease
mucopolysaccharidosis type II
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
03
10
2019
accepted:
18
12
2019
entrez:
8
4
2020
pubmed:
8
4
2020
medline:
8
4
2020
Statut:
epublish
Résumé
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. The patient was 5 years and 6 months boy, with developmental delay, hearing loss, hepatosplenomegaly, and skeletal dysplasia. He was diagnosed with mucopolysaccharidosis type II based on clinical manifestations, biochemical and genetic analysis. The patient carries a new mutation (c.879-1210_1007-218del) in hemizygosis in the
Identifiants
pubmed: 32256517
doi: 10.3389/fgene.2019.01383
pmc: PMC7093562
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1383Informations de copyright
Copyright © 2020 Gomes, Marins, Motta, Kyosen, Curiati, D’Almeida, Martins and Pesquero.
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