Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S

Stable Identifier
R-HSA-2263495
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
Defective GNS does not hydrolyse 6-sulfate from N-acetylglucosamine 6-sulfate of KS
Locations in the PathwayBrowser
General
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Due to the rarity of this disease, only approximately 20 mutations had been described. Recently a study by Valstar et al. revealed 15 of those mutations (Valstar et al. 2010). The group also conducted a literature survey of MPS IIID (MIM:252940). Mutations include R355X (Mok et al. 2003), Q390X (Jansen et al. 2007), Q272X (Beesley et al. 2007) and S94I (Valstar et al. 2010). Other mutations are not detailed here but can be referenced in the Valstar et al. review (Valstar et al. 2010).

Literature References
PubMed ID Title Journal Year
20232353 Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Valstar, MJ, Bertoli-Avella, AM, Wessels, MW, Ruijter, GJ, de Graaf, B, Olmer, R, Elfferich, P, Neijs, S, Kariminejad, R, Suheyl Ezgü, F, Tokatli, A, Czartoryska, B, Bosschaart, AN, van den Bos-Terpstra, F, Puissant, H, Bürger, F, Omran, H, Eckert, D, Filocamo, M, Simeonov, E, Willems, PJ, Wevers, RA, Niermeijer, MF, Halley, DJ, Poorthuis, BJ, van Diggelen, OP

Hum Mutat 2010
16990043 Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Beesley, CE, Concolino, D, Filocamo, M, Winchester, BG, Strisciuglio, P

Mol Genet Metab 2007
17998446 Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene

Jansen, AC, Cao, H, Kaplan, P, Silver, K, Leonard, G, De Meirleir, L, Lissens, W, Liebaers, I, Veilleux, M, Andermann, F, Hegele, RA, Andermann, E

Arch Neurol 2007
12573255 Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase

Mok, A, Cao, H, Hegele, RA

Genomics 2003
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
N-acetylglucosamine-6-sulfatase activity of GNS mutants [lysosomal lumen]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
mucopolysaccharidosis III 12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
Authored
Reviewed
Created
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