Biology:SGSH
 Generic protein structure example |
N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.[1][2]
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.[3] 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[4] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[2]
References
- ↑ "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nature Genetics 11 (4): 465–7. Dec 1995. doi:10.1038/ng1295-465. PMID 7493035.
- ↑ 2.0 2.1 "Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6448.
- ↑ "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. Apr 2000. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
- ↑ "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics 20 (2): 152–60. Aug 1981. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310.
Further reading
- "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation 18 (4): 264–81. Oct 2001. doi:10.1002/humu.1189. PMID 11668611.
- "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics 20 (2): 152–60. Aug 1981. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Structure and sequence of the human sulphamidase gene". DNA Research 3 (4): 269–71. Aug 1996. doi:10.1093/dnares/3.4.269. PMID 8946167.
- "Molecular defects in Sanfilippo syndrome type A". Human Molecular Genetics 6 (5): 787–91. May 1997. doi:10.1093/hmg/6.5.787. PMID 9158154.
- "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Human Molecular Genetics 6 (9): 1573–9. Sep 1997. doi:10.1093/hmg/6.9.1573. PMID 9285796.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Human Mutation 10 (6): 479–85. 1998. doi:10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. PMID 9401012.
- "Recombinant human sulphamidase: expression, amplification, purification and characterization". The Biochemical Journal 329 (Pt 1): 145–50. Jan 1998. doi:10.1042/bj3290145. PMID 9405287.
- "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations". Human Mutation 11 (4): 313–20. 1998. doi:10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. PMID 9554748.
- "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". Journal of Inherited Metabolic Disease 21 (4): 416–22. Jun 1998. doi:10.1023/A:1005362826552. PMID 9700599.
- "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Human Mutation 12 (4): 274–9. 1998. doi:10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. PMID 9744479.
- "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenatal Diagnosis 19 (10): 993–4. Oct 1999. doi:10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L. PMID 10521831.
- "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. Apr 2000. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
- "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. May 2001. doi:10.1002/ajmg.1248. PMID 11343308.
- "Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B". Human Mutation 19 (2): 184–5. Feb 2002. doi:10.1002/humu.9009. PMID 11793481.
- "Analysis of Sanfilippo A gene mutations in a large pedigree". Clinical Genetics 63 (4): 314–8. Apr 2003. doi:10.1034/j.1399-0004.2003.00053.x. PMID 12702166.
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