Ta. Smith et al., Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family, J MED GENET, 36(4), 1999, pp. 313-315
Citations number
11
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Relatively few point mutations have been found in the dystrophin gene and o
f these only two have been associated with mosaicism. A single base inserti
on 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 l
ineages have been tested and the time at which the mutation arose was deter
mined 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 dat
a suggest.