An example for gain of function mutation is?: (A) Osteogenesis imperfecta, (B) Ehler danlos syndrome, (C) Marfan syndrome, (D) Huntington's disease
Answer is D. Ans. (d) Huntington's diseaseIn Huntington disease, the trinucleotide repeat mutation affecting the Huntington gene gives rise to an abnormal protein, called huntingtin, that is toxic to neurons causing neurologic deficit