Abstract
RationaleMucopolysaccharidosis 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.PatientThe 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.OutcomesThe patient carries a new mutation (c.879-1210_1007-218del) in hemizygosis in the IDS gene, which was defined as pathogenic according to the 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines and as responsible for the mucopolysaccharidosis type II phenotype in the patient.
Highlights
Known as mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS gene— OMIM 309900), leading to progressive accumulation of glycosaminoglycans (Neufeld and Muenzer, 1995; Wraith et al, 2008; Roberts et al, 2016; Tomatsu et al, 2018)
The aim of our study is to describe a new mutation in the IDS gene causing Hunter syndrome
The disease is caused by the accumulation of glycosaminoglycans, due to deficiency of the enzyme iduronate-2-sulfatase (Roberts et al, 2016)
Summary
Known as mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS gene— OMIM 309900), leading to progressive accumulation of glycosaminoglycans (Neufeld and Muenzer, 1995; Wraith et al, 2008; Roberts et al, 2016; Tomatsu et al, 2018).Children with Hunter syndrome present a variety of clinical symptoms, ranging from attenuated to severe. The distinguishing factor of severity is the presence, or absence, of progressive cognitive deterioration; the severe form affects approximately 75% of all MPS II patients (Neufeld and Muenzer, 1995; Wraith et al, 2008; Jones et al, 2009; Quaio et al, 2012; Roberts et al, 2016). Patients with mild phenotype generally have normal cognitive function and extended survival compared to those with the severe form, with progressive cognitive deterioration (Neufeld and Muenzer, 1995; Wraith et al, 2008; Jones et al, 2009; Roberts et al, 2016). The treatment for the disease usually consists of enzyme replacement therapy and palliative care to manage disease symptoms and the effects of cognitive and somatic deterioration (Jones et al, 2009; Roberts et al, 2016)
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