A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report [PDF]
Frontiers in Genetics, 2020 RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes +7 more
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Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene [PDF]
Stem Cell Research, 2019 Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong +8 more
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Revealing the role of a novel IDS gene mutation in mucpolysaccharidosis type II: insights from computational analysis [PDF]
Frontiers in Molecular BiosciencesIntroductionMucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked lysosomal storage disorder caused by variants in the IDS gene. This study reports a male infant with a novel hemizygous frameshift mutation (IDS gene: NM_000202.8, c ...
Shanzhou Huang +9 more
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Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants [PDF]
Human GenomicsPurpose Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups.
Alessandra Zanetti +2 more
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Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. [PDF]
JIMD Rep, 2015 Mucopolysaccharidosis type II (MPSII), also known as Hunter syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) gene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans.
Galvis J +3 more
europepmc +4 more sources
Merging evans syndrome with mucopolysaccharidosis type II: a case report [PDF]
Frontiers in PediatricsMucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage metabolic disorder caused by pathogenic mutations in the iduronate-2-sulfatase (IDS) gene. Herein, we report the case of a 2-year-old male patient diagnosed with concurrent
Xinrui Wang +6 more
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IDconverter and IDClight: Conversion and annotation of gene and protein IDs [PDF]
BMC Bioinformatics, 2007 Background Researchers involved in the annotation of large numbers of gene, clone or protein identifiers are usually required to perform a one-by-one conversion for each identifier.
Díaz-Uriarte Ramón +3 more
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Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis type II (OMIM 309900) is a lysosomal storage disorder caused by iduronate 2-sulfatase (IDS) deficiency and accumulation of glycosaminoglycans, leading to progressive neurodegeneration.
Fabio Catalano +14 more
doaj +3 more sources
Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review [PDF]
BMC PediatricsObjective To highlight the mutations of the iduronate-2-sulfatase (IDS) gene in one family with different origins. Case presentation The proband (case 1) was a 4-year and 7-month-old boy who presented for "inability to fully extend his fingers for over 2
Ruo-Yan Liu, Yang-Li Dai, Chao-Chun Zou
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Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II [PDF]
Data in Brief, 2015 This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T.
Liliana Matos +8 more
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