Detection of point mutations and a gross deletion in six Hunter Syndrome patients
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2022, European Journal of Medical GeneticsSetup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders
2020, Journal of Molecular DiagnosticsCitation Excerpt :Also, variants covered by low-quality reads [eg, variants falling in specific regions of the genes harboring a pseudogene (ie, IDS and GBA)] were not retrieved by our variant search. Supplemental Table S3 reports the list of genotypes of positive control samples included in the present study.20-72 The presence of large deletions encompassing one or more exons was confirmed by checking the degree of coverage of the affected exon(s) through the visualization tool Integrative Genomics Viewer.
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase
2016, Molecular Genetics and MetabolismCitation Excerpt :Such an insertion in the mRNA of the IDS gene was confirmed by capillary electrophoresis (Fig. 3B). For the attenuated type of MPS II, we identified a c.1122C > T mutation that induces a relatively short exon 8, leading to a 60-bp deletion without a frameshift (patient 15) [27]. We noticed that an identical missense mutation in the IDS gene was found in some patients suffering from both severe and attenuated type of MPS II (Table 1).
Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II
2015, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :Some involved exon 3 of IDS; the pre-mRNA region of this exon is particularly vulnerable to defects in splicing regulation. In the present work, functional analysis based on reporter minigenes was performed for two exon 3 nucleotide changes, c.257C > T [29-31] and c.241C > T [32], which confirmed these to be involved in exon 3 splicing dysregulation. Further, mutant minigene analysis and overexpression assays revealed that the SRSF2 (formerly SC35) and hnRNP E1 proteins might be involved in the use and repression of the constitutive 3′ splice site of exon 3 respectively.
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
2014, Molecular Genetics and Metabolism ReportsMucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
2014, Molecular Genetics and Metabolism