MPS VII - Sly syndrome

Stable Identifier
R-HSA-2206292
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

Mucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-glucuronidase (GUSB; MIM:611499) which would normally cleave glucuronide residues from dematan sulphate, keratan sulphate and chondroitin sulphate, resulting in build up of these GAGs in cells and tissues (Sly et al. 1973). The gene encoding GUSB is 21 kb long, contains 12 exons and gives rise to two different types of cDNAs, through an alternate splicing mechanism (Miller et al. 1990). It maps to 7q11.21-q11.22 (Speleman et al. 1996). The phenotype is highly variable, ranging from severe causing death, non-immune hydrops fetalis (Vervoort et al. 1996) to mild forms with survival into adulthood (Storch et al. 2003). Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al. 1993, Tomatsu et al. 2009).

Literature References
PubMed ID Title Journal Year
19224584 Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

Tomatsu, S, Montaño, AM, Dung, VC, Grubb, JH, Sly, WS

Hum Mutat 2009
7680524 Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

Shipley, JM, Klinkenberg, M, Wu, BM, Bachinsky, DR, Grubb, JH, Sly, WS

Am. J. Hum. Genet. 1993
12522561 Mutational analysis in longest known survivor of mucopolysaccharidosis type VII

Storch, S, Wittenstein, B, Islam, R, Ullrich, K, Sly, WS, Braulke, T

Hum. Genet. 2003
8644704 Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

Vervoort, R, Islam, MR, Sly, WS, Zabot, MT, Kleijer, WJ, Chabas, A, Fensom, A, Young, EP, Liebaers, I, Lissens, W

Am. J. Hum. Genet. 1996
2347593 Cloning and characterization of the human beta-glucuronidase gene

Miller, RD, Hoffmann, JW, Powell, PP, Kyle, JW, Shipley, JM, Bachinsky, DR, Sly, WS

Genomics 1990
8565635 Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13

Speleman, F, Vervoort, R, van Roy, N, Liebaers, I, Sly, WS, Lissens, W

Cytogenet. Cell Genet. 1996
4265197 Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

Sly, WS, Quinton, BA, McAlister, WH, Rimoin, DL

J. Pediatr. 1973
Participants
Participant Of
Disease
Name Identifier Synonyms
mucopolysaccharidosis VII 12803 mucopolysaccharidosis type VII, Mucopolysaccharidosis, MPS-VII (disorder), deficiency of beta-glucuronidase (disorder), mucopolysaccharidosis type VII
Authored
Reviewed
Created
Cite Us!