Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome

“…Considering each phenotypic group, patients with the nonneuronopathic form only had single base-pair substitutions, except two unrelated patients that had a 178 bp deletion in the promoter region of the IDS gene, classified as regulatory. This regulatory variant was previous reported in the literature (Timms et al, 1998) and is speculated to interfere in RNA polymerase binding region creating an alternative translation start site (Brusius-Facchin et al, 2013).…”

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

“…Indeed, whole IDS gene deletion (with or without the involvement of further neighboring genes) and partial IDS exon deletions have been reported in multiple studies, mainly in patients with a severe Hunter syndrome presentation [ 41 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 ]. Furthermore, IDS exons duplications, IDS1/IDS2 inversions, chimeric IDS-IDS2 allele and other large complex rearrangements have been described [ 41 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 ], as well as deletions in the promoter region in patients with a mild phenotype [ 72 ]. Recently, a case report described a girl with comorbidity of Hunter and Turner syndromes caused by a partial deletion in the long arm of chromosome X of paternal origin and a deletion of IDS inherited from the mother [ 73 ].…”

Otolaryngological findings in mucopolysaccharidosis

“…In MPS II, due to the lack of iduronate 2 sulfatase (IDS), dermatan and heparan sulfate accumulate. [13] The Hunter syndrome is distinct from the other mucopolysaccharidoses in that it is an X-linked disorder. The genetic locus has been mapped to Xq28.…”