Application | Comment | Organism |
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medicine | identification of HGSNAT mutations in six patients with non-syndromic retinitis pigmentosa. Homozygous HGSNAT variant c.370A>T leads to partial skipping of exon 3. In other patients with retinitis pigmentosa, a complex HGSNAT variant, c.[398G>C; 1843G>A] on one allele, and c.1843G>A on the other allele, is found. HGSNAT activity levels in blood leukocytes of patients are reduced compared with healthy controls, but usually higher than those in mucopolysaccharidosis type IIIC patients. All patients are diagnosed with non-syndromic retinitis pigmentosa and do not exhibit neurological deterioration, or any phenotypic features consistent with in mucopolysaccharidosis type IIIC. Four of the patients are over 60 years old, exceeding by far the life expectancy of mucopolysaccharidosis IIIC patients | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | Q68CP4 | - |
- |