Whole genome sequencing in neuromuscular diseases: the UNIFE experience within the neuromics project


In order to identify novel candidate genes involved in complex neuromuscular phenotypes, within the NEUROMICS project we performed whole genome sequencing (WGS) in: i) 3 patients respectively with : ataxia complicated by spastic paraparesis, ataxia and dystonia, Duchenne-like phenotype. We analyzed the trios in all. ii) 2 families of four, respectively with recurrence in siblings of congenital arthrogryposis and of spastic paraparesis plus ataxia and neuropathy. iii) a sibling pair with limb girdle muscular dystrophy (LGMD) The analysis unraveled the genetic cause of the LGMD: a compound heterozygosis in the CAPN3 gene was identified and validated in both the affected.


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