What is the incidence, prevalence, and mutation rate of Marfan syndrome in north east Scotland?
The study provides epidemiological data on Marfan syndrome in Scotland, showing a minimal birth incidence of 1:9802 and a 26.7% rate of new mutations.
This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.
Gray et al. (Sat,) studied this question.