Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family

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Relatively few point mutations have been found in the dystrophin gene and of these only two have been associated with mosaicism.A single base insertion has been identified and quantified in a mother of two sons affected with Duchenne muscular dystrophy. It has been determined that she is a somatic mosaic with the mutation present in 25% of lymphocyte DNA. Further tissue lineages have been tested and the time at which the mutation arose was determined to be before the cellular differentiation into the bilaminar disc at approximately eight days after fertilisation. We suggest that the incidence of mosaicism for dystrophin point mutations may be higher than current data suggest.

(J Med Genet 1999;36:313-315)

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