Which disease is caused by a point mutation?

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(A) point mutation is a change in a single base pair of $DNA$. Sickle cell anemia is a classic example of a point mutation where a single nucleotide s

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Sickle cell anemia

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(A) point mutation is a change in a single base pair of $DNA$. Sickle cell anemia is a classic example of a point mutation where a single nucleotide substitution ($GAG$ to $GUG$) occurs in the $\beta$-globin gene,leading to the substitution of glutamic acid with valine at the sixth position of the $\beta$-globin chain. Down's syndrome,Turner's syndrome,and Klinefelter's syndrome are chromosomal disorders caused by aneuploidy (gain or loss of chromosomes),not by point mutations.

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