G.P.12

Identifying the piece of DNA culprit of a genetic disease has not been as straightforward as expected with the evolution of sequencing capabilities. This difficulty is exemplified by facioscapulohumeral dystrophy (FSHD) study. Unexpectedly, contributions in completing this picture recently came from mice models carrying a muscle specific knock-out of the protocadherin gene Fat1 or its constitutive hypomorphic allele. Both have been shown to develop muscular and non-muscular defects mimicking human FSHD. In humans, this disease is linked to copy number reduction ( n