SGSH
N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.[5][6]
Clinical significance
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.[7] 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[8] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[6]
References
- GRCh38: Ensembl release 89: ENSG00000181523 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000005043 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (Dec 1995). "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nature Genetics. 11 (4): 465–7. doi:10.1038/ng1295-465. PMID 7493035. S2CID 25869397.
- "Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)".
- Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
- van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310. S2CID 24826103.
Further reading
- Yogalingam G, Hopwood JJ (Oct 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611. S2CID 25731955.
- van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310. S2CID 24826103.
- Maruyama K, Sugano S (Jan 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, Weber B, Anson DS, Scott HS, Hopwood JJ (Aug 1996). "Structure and sequence of the human sulphamidase gene". DNA Research. 3 (4): 269–71. doi:10.1093/dnares/3.4.269. PMID 8946167.
- Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ (May 1997). "Molecular defects in Sanfilippo syndrome type A". Human Molecular Genetics. 6 (5): 787–91. doi:10.1093/hmg/6.5.787. PMID 9158154.
- Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ (Sep 1997). "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Human Molecular Genetics. 6 (9): 1573–9. doi:10.1093/hmg/6.9.1573. PMID 9285796.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A (1998). "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Human Mutation. 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 (Jan 1998). "Recombinant human sulphamidase: expression, amplification, purification and characterization". The Biochemical Journal. 329 (Pt 1): 145–50. doi:10.1042/bj3290145. PMC 1219025. PMID 9405287.
- Di Natale P, Balzano N, Esposito S, Villani GR (1998). "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations". Human Mutation. 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, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ (Jun 1998). "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". Journal of Inherited Metabolic Disease. 21 (4): 416–22. doi:10.1023/A:1005362826552. PMID 9700599. S2CID 9346499.
- Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D (1998). "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Human Mutation. 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, Balzano N, Filocamo M, Gatti R (Oct 1999). "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenatal Diagnosis. 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, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
- Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L (May 2001). "Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation". American Journal of Medical Genetics. 100 (3): 223–8. doi:10.1002/ajmg.1248. PMID 11343308.
- Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ (Feb 2002). "Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B". Human Mutation. 19 (2): 184–5. doi:10.1002/humu.9009. PMID 11793481. S2CID 35508263.
- Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A (Apr 2003). "Analysis of Sanfilippo A gene mutations in a large pedigree". Clinical Genetics. 63 (4): 314–8. doi:10.1034/j.1399-0004.2003.00053.x. PMID 12702166. S2CID 39262556.
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