SGSH
N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.[1][2]
A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000 [PubMed 10727844]). MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981 [PubMed 6796310]) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[supplied by OMIM][2]
References
Further reading
- Yogalingam G, Hopwood JJ (2002). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.". Hum. Mutat. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611.
- van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (1982). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).". Clin. Genet. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Karageorgos LE, Guo XH, Blanch L, et al. (1997). "Structure and sequence of the human sulphamidase gene". DNA Res. 3 (4): 269–71. doi:10.1093/dnares/3.4.269. PMID 8946167.
- Blanch L, Weber B, Guo XH, et al. (1997). "Molecular defects in Sanfilippo syndrome type A". Hum. Mol. Genet. 6 (5): 787–91. doi:10.1093/hmg/6.5.787. PMID 9158154.
- Weber B, Guo XH, Wraith JE, et al. (1998). "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Hum. Mol. Genet. 6 (9): 1573–9. doi:10.1093/hmg/6.9.1573. PMID 9285796.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Bunge S, Ince H, Steglich C, et al. (1998). "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Hum. Mutat. 10 (6): 479–85. doi:10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. PMID 9401012.
- Bielicki J, Hopwood JJ, Melville EL, Anson DS (1998). "Recombinant human sulphamidase: expression, amplification, purification and characterization". Biochem. J. 329 ( Pt 1) (Pt 1): 145–50. PMC 1219025. PMID 9405287. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1219025.
- Di Natale P, Balzano N, Esposito S, Villani GR (1998). "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations". Hum. Mutat. 11 (4): 313–20. doi:10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. PMID 9554748.
- Weber B, van de Kamp JJ, Kleijer WJ, et al. (1998). "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". J. Inherit. Metab. Dis. 21 (4): 416–22. doi:10.1023/A:1005362826552. PMID 9700599.
- Montfort M, Vilageliu L, Garcia-Giralt N, et al. (1998). "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Hum. Mutat. 12 (4): 274–9. doi:10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. PMID 9744479.
- Di Natale P, Villani GR, Esposito S, et al. (1999). "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenat. Diagn. 19 (10): 993–4. doi:10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L. PMID 10521831.
- Esposito S, Balzano N, Daniele A, et al. (2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochim. Biophys. Acta 1501 (1): 1–11. PMID 10727844.
- Chabás A, Montfort M, Martínez-Campos M, et al. (2001). "Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation". Am. J. Med. Genet. 100 (3): 223–8. doi:10.1002/ajmg.1248. PMID 11343308.
- Emre S, Terzioglu M, Tokatli A, et al. (2002). "Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B". Hum. Mutat. 19 (2): 184–5. doi:10.1002/humu.9009. PMID 11793481.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Di Natale P, Villani GR, Di Domenico C, et al. (2004). "Analysis of Sanfilippo A gene mutations in a large pedigree". Clin. Genet. 63 (4): 314–8. doi:10.1034/j.1399-0004.2003.00053.x. PMID 12702166.
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| glycosaminoglycan anabolism |
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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