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Article

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

American journal of medical genetics. Part A - 1 May 2012

Brusius-Facchin Ana Carolina, De Souza Carolina Fischinger Moura, Schwartz Ida Vanessa D, Riegel Mariluce, Melaragno Maria Isabel, Correia Patrícia, Moraes Lúcia Marques, Llerena Juan, Giugliani Roberto, Leistner-Segal Sandra

Abstract excerpt

Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene, after exon by exon PCR. DNA...

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Identifiers

PMID: 22492741
DOI: 10.1002/ajmg.a.35271

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.PMID 22492741Read ↗

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Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)Semantic proximity Read ↗

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