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Table 1 Clinical, biochemical and molecular details of the Indian patients with Tay–Sachs disease

From: Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

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
  1. Normal total-Hexosaminidase values using MUG substrate in our controls − 723 to 2700 nmol/hr./mg protein and normal Hex-A activity using MUGS substrate- 80 to 410 nmol/hr./mg
  2. aThe MUG/MUGS ratio for Hex A is 3.7:1 [10]
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