SGSH

No. of putative disease causing mutations: 2
No. of polymorphisms:

Identifier Nucleotide change Mutation Amino acid change/ 

Predicted consequence

Location Restriction site change Phenotype No of families with mutation Country/ies of origin Reference
sgsh.001 c.904T>C Missense p.Ser298Pro       1  

Sleat et al. 2009.   Mol Cell Proteomics 8:1708-18

sgsh.002 c.1075G>A Missense p.Glu355Lys       1   Sleat et al. 2009.   Mol Cell Proteomics 8:1708-18

 

A single case that was diagnosed wth ANCL lacked SGSH protein and carried two heterozygos mutations in SGSH. These mutations are more usually found to cause MPSIIIA, and this case is more accurately decribed as late onset MPSIIIA.

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