What type of mutation causes Tay-Sachs disease?

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. ... Because these mutations cripple the catalytic activity of beta-hexosaminidase to varying degrees, Tay-Sachs disease displays clinical heterogeneity. ... Eight frameshift mutations arise from six deletion- and two insertion-type lesions. read more

Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. read more

Six nonsense mutations and 14 splice site lesions result from single base substitutions, and all but one of the splice site lesions cause a severe form of Tay-Sachs disease. Eight frameshift mutations arise from six deletion- and two insertion-type lesions. read more

There are several, and I mean several, as in over a hundred, of mutations that cause Tay Sachs disease All of these mutations are on the HEXA gene on the chromosome 15. Basically, have a defect HEXA gene that codes for a messed up protein and you’ll have Tay Sachs or rather, you’ll be a carrier. read more