N-Sulfoglucosamine Sulfohydrolase (SGSH)

HSS; MPS3A; SFMD; Sulfamidase; Sulfoglucosamine sulfamidase

SPN	P564
HGNC	10818
MGI	1350341
PubMed	18407553
UniProt	P51688
Wiki	SGSH

A number sign is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.

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 to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival

Reference

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Hum. Mol. Genet. 6:787-791(1997) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in Sanfilippo A syndrome: implications for enzyme function."
Hum. Mol. Genet. 6:1573-1579(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)."
Hum. Mutat. 10:479-485(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations."
Hum. Mutat. 11:313-320(1998) [PubMed] [Europe PMC] [Abstract]

"Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients."
Hum. Mutat. 12:274-279(1998) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations."
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"Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)."
Clin. Genet. 61:192-197(2002) [PubMed] [Europe PMC] [Abstract]

"Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B."
Hum. Mutat. 19:184-185(2002) [PubMed] [Europe PMC] [Abstract]

"Analysis of Sanfilippo A gene mutations in a large pedigree."
Clin. Genet. 63:314-318(2003) [PubMed] [Europe PMC] [Abstract]

"Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A."
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"An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene."
Am. J. Med. Genet. A 133:85-89(2005) [PubMed] [Europe PMC] [Abstract]

"Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene."
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"Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA."
Hum. Genet. 119:679-679(2006) [PubMed] [Europe PMC] [Abstract]

"Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders."
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"The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)."
Hum. Mutat. 29:770-770(2008) [PubMed] [Europe PMC] [Abstract]

"Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome."
Am. J. Med. Genet. A 155A:1634-1639(2011) [PubMed] [Europe PMC] [Abstract]