Fragile-X Syndrome is an Example of a Disease Caused by What

Question

Fragile-X syndrome is an example of a disease caused by what type of mutation?
A)Nonsense mutation
B)Frameshift mutation
C)Expanding nucleotide repeat
D)Loss-of-function
E)Gain-of-function

Accepted Answer

Fragile-X syndrome is caused by an expanding nucleotide repeat mutation which occurs when a specific sequence of DNA is repeated multiple times within the FMR1 gene. The expansion of this repeat leads to a loss of function of the FMR1 protein, resulting in developmental delays, intellectual disability, and other symptoms associated with the syndrome.