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
doaj +5 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 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
doaj +2 more sources
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
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
doaj +2 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
doaj +2 more sources
Biology, 2022 The increasing incorporation of omics technologies into biomedical research and translational medicine presents challenges to end users of the large and complex datasets that are generated by these methods.
Joshua D. Breidenbach +3 more
doaj +1 more source
Sustained long-term disease correction in a murine model of MPSII following stem cell gene therapy
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis type II (MPSII) is a pediatric lysosomal storage disease caused by deficiencies in the IDS (iduronate-2-sulfatase) gene resulting in accumulation of glycosaminoglycans, multisystem disease, and profound neurodegeneration in severe ...
Stuart Ellison +9 more
doaj +1 more source