There is a 50% probability that children born to parents who have achondroplasia will also have it, and there is an 80% likelihood that achondroplasia will develop spontaneously.
There is mounting evidence that FGF3R mutations result in "gain of function." It is hypothesized that FGFR3 slows the development of bone by preventing chondrocytes, the cells that make cartilage, from proliferating. Infants have a 50% risk of acquiring achondroplasia if one parent has the condition. The infant has a 75% chance of being affected if both parents have the condition. The mutation rate is estimated to be 1.4 x 10-5 per gamete per generation, and it accounts for about 80% of cases.
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