Table 1 Clinical, biochemical and molecular details of the Indian patients with Tay–Sachs disease
Patient ID | Age at diagnosis(Months/ Sex | NativeState | Cosan-guinity | Hex-A activity(MUGS) (nmol/hr./mg) = (x) | Total Hexactivity(MUG) = (y) | a HexA % =(x/y) X 100 | Genotypes | Phenotypes | |
|---|---|---|---|---|---|---|---|---|---|
Nucleotide level (Allele fromFather/ Allele from Mother) | Protein level (Allele from Father/Allele from Mother) | ||||||||
1 | 18/M | Gujarat | No | 0.9 | 1292.1 | 0.07 | Exon-2-3del/ Exon-2-3del | Not | Regression of milestone, cherry red spot,abnormal muscle tone, hyperacusis, seizures,abnormal MRI, |
2 | 14/M | Gujarat | No | 1.05 | Not done | – | Exon-2-3del/ Exon-2-3del | Not applicable | Regression of milestone, cherry red spot,poor vision, abnormal muscle tone,hyperacusis, seizures, abnormal MRI, abnormalEEG |
3 | 12/F | Gujarat | No | 3.8 | 2185.7 | 0.17 | c.1385A > T/Exon-1 deletion | p.E462V/ Not applicable | Regression of milestone, cherry red spot,abnormal muscle tone, seizures, hyperacusis,hearing impairment |
4 | 13/F | Gujarat | No | 2.5 | 1635 | 0.15 | c.1385A > T/Exon-1 deletion | p.E462V/ Not applicable | Regression of milestone, hypotonia,hyperacusis, cherry red spot, abnormal MRI |
5 | 13/ M | Karnataka | Yes | 1.78 | 2198.2 | 0.08 | c.1527-2 A > T/Exon-1 duplication | Not applicable | Regression of milestone, cherry red spot,hypotonia |